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Volume 13; Issue 6

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Mitochondrion
Volume 13; Issue 6

Mitochondrion

Volume 13; Issue 6

1

Mitochondrial DNA variations in Madras motor neuron disease

Govindaraj, Periyasamy, Nalini, Atchayaram, Krishna, Nithin, Sharath, Anugula, Khan, Nahid Akhtar, Tamang, Rakesh, Gourie-Devi, M., Brown, Robert H., Thangaraj, Kumarasamy

Journal:

Year:

2013

Language:

english

File:

PDF, 782 KB

english, 2013

2

Preventive SNP–SNP interactions in the mitochondrial displacement loop (D-loop) from chronic dialysis patients

Chen, Jin-Bor, Chuang, Li-Yeh, Lin, Yu-Da, Liou, Chia-Wei, Lin, Tsu-Kung, Lee, Wen-Chin, Cheng, Ben-Chung, Chang, Hsueh-Wei, Yang, Cheng-Hong

Journal:

Year:

2013

Language:

english

File:

PDF, 770 KB

english, 2013

3

Dual control of mitochondrial biogenesis by sirtuin 1 and sirtuin 3

Brenmoehl, Julia, Hoeflich, Andreas

Journal:

Year:

2013

Language:

english

File:

PDF, 695 KB

english, 2013

4

Lipidomic characterization of streptozotocin-induced heart mitochondrial dysfunction

Ferreira, Rita, Guerra, Gabriela, Padrão, Ana Isabel, Melo, Tânia, Vitorino, Rui, Duarte, José Alberto, Remião, Fernando, Domingues, Pedro, Amado, Francisco, Domingues, M. Rosário

Journal:

Year:

2013

Language:

english

File:

PDF, 870 KB

english, 2013

5

Positive selection along the evolution of primate mitogenomes

Menezes, Albert N., Viana, Maria Carolina, Furtado, Carolina, Schrago, Carlos G., Seuánez, Héctor N.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.22 MB

english, 2013

6

Application of 2D BN/SDS-PAGE coupled with mass spectrometry for identification of VDAC-associated protein complexes related to mitochondrial binding sites for type I brain hexokinase

Crepaldi, Carla Rossini, Vitale, Phelipe Augusto Mariano, Tesch, Andrea Cristina, Laure, Hélen Julie, Rosa, José César, de Cerqueira César, Marcelo

Journal:

Year:

2013

Language:

english

File:

PDF, 712 KB

english, 2013

7

Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

Ross-Cisneros, Fred N., Pan, Billy X., Silva, Ruwan A., Miller, Neil R., Albini, Thomas A., Tranebjaerg, Lisbeth, Rendtorff, Nanna D., Lodahl, Marianne, Moraes-Filho, Milton N., Moraes, Milton N., Sal

Journal:

Year:

2013

Language:

english

File:

PDF, 1.22 MB

english, 2013

8

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome

Badura-Stronka, Magdalena, Wawrocka, Anna, Zawieja, Krzysztof, Silska, Sylwia, Krawczyński, Maciej Robert

Journal:

Year:

2013

Language:

english

File:

PDF, 530 KB

english, 2013

9

Mitochondrial respiration in blood platelets of depressive patients

Hroudová, Jana, Fišar, Zdeněk, Kitzlerová, Eva, Zvěřová, Martina, Raboch, Jiří

Journal:

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

10

Translational research in primary mitochondrial diseases: Challenges and opportunities

Moraes, Carlos T., Anderson, Vernon, Mohan, Charles

Journal:

Year:

2013

Language:

english

File:

PDF, 195 KB

english, 2013

11

Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington's disease carriers

Silva, Ana C., Almeida, Sandra, Laço, Mário, Duarte, Ana I., Domingues, Joana, Oliveira, Catarina R., Januário, Cristina, Rego, A. Cristina

Journal:

Year:

2013

Language:

english

File:

PDF, 742 KB

english, 2013

12

Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigenetics

Guha, Manti, Avadhani, Narayan G.

Journal:

Year:

2013

Language:

english

File:

PDF, 617 KB

english, 2013

13

Enzymes involved in l-lactate metabolism in humans

Adeva, M., González-Lucán, M., Seco, M., Donapetry, C.

Journal:

Year:

2013

Language:

english

File:

PDF, 385 KB

english, 2013

14

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell

Journal:

Year:

2013

Language:

english

File:

PDF, 142 KB

english, 2013

15

Evolutionarily conserved motifs and modules in mitochondrial protein–protein interaction networks

Jafari, Mohieddin, Sadeghi, Mehdi, Mirzaie, Mehdi, Marashi, Sayed-Amir, Rezaei-Tavirani, Mostafa

Journal:

Year:

2013

Language:

english

File:

PDF, 2.10 MB

english, 2013

16

Berberine reverts hepatic mitochondrial dysfunction in high-fat fed rats: A possible role for SirT3 activation

Teodoro, João Soeiro, Duarte, Filipe Valente, Gomes, Ana Patrícia, Varela, Ana Teresa, Peixoto, Francisco Manuel, Rolo, Anabela Pinto, Palmeira, Carlos Marques

Journal:

Year:

2013

Language:

english

File:

PDF, 1.48 MB

english, 2013

17

Light activation of the insulin receptor regulates mitochondrial hexokinase. A possible mechanism of retinal neuroprotection

Rajala, Ammaji, Gupta, Vivek K., Anderson, Robert E., Rajala, Raju V.S.

Journal:

Year:

2013

Language:

english

File:

PDF, 3.00 MB

english, 2013

18

Impact of low temperature on splicing of atypical group II introns in wheat mitochondria

Dalby, Stephen J., Bonen, Linda

Journal:

Year:

2013

Language:

english

File:

PDF, 1.34 MB

english, 2013

19

Modulation of hepatic redox status and mitochondrial metabolism by exercise: Therapeutic strategy for liver diseases

Ascensão, António, Martins, Maria J, Santos-Alves, Estela, Gonçalves, Inês O., Portincasa, Piero, Oliveira, Paulo J., Magalhães, José

Journal:

Year:

2013

Language:

english

File:

PDF, 676 KB

english, 2013

20

A mitochondrial DNA variant 10398G>A in breast cancer among South Indians: An original study with meta-analysis

Francis, Amirtharaj, Pooja, Singh, Rajender, Singh, Govindaraj, Periyasamy, Tipirisetti, Nageswara Rao, Surekha, Daminani, Rao, Digumarthi Raghunatha, Rao, Lakshmi, Ramachandra, Lingadakai, Vishnupriy

Journal:

Year:

2013

Language:

english

File:

PDF, 489 KB

english, 2013

21

Exonuclease of human DNA polymerase gamma disengages its strand displacement function

He, Quan, Shumate, Christie K., White, Mark A, Molineux, Ian J., Yin, Y. Whitney

Journal:

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

22

Study of insulin resistance in cybrid cells harboring diabetes-susceptible and diabetes-protective mitochondrial haplogroups

Weng, Shao-Wen, Kuo, Hsiao-Mei, Chuang, Jiin-Haur, Lin, Tsu-Kung, Huang, Hui-Lin, Lin, Hung-Yu, Liou, Chia-Wei, Wang, Pei-Wen

Journal:

Year:

2013

Language:

english

File:

PDF, 2.56 MB

english, 2013

23

Detection of preclinically latent hyperperfusion due to stroke-like episodes by arterial spin-labeling perfusion MRI in MELAS patients

Ikawa, Masamichi, Yoneda, Makoto, Muramatsu, Tomoko, Matsunaga, Akiko, Tsujikawa, Tetsuya, Yamamoto, Tatsuya, Kosaka, Nobuyuki, Kinoshita, Kazuyuki, Yamamura, Osamu, Hamano, Tadanori, Nakamoto, Yasuna

Journal:

Year:

2013

Language:

english

File:

PDF, 551 KB

english, 2013

24

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

Pronicka, Ewa, Piekutowska-Abramczuk, Dorota, Szymańska-Dębińska, Tamara, Bielecka, Liliana, Kowalski, Paweł, Łuczak, Sylwia, Karkucińska-Więckowska, Agnieszka, Migdał, Marek, Kubalska, Jolanta, Zimow

Journal:

Year:

2013

Language:

english

File:

PDF, 387 KB

english, 2013

25

Sleep disordered breathing in children with mitochondrial disease

Mosquera, Ricardo A., Koenig, Mary Kay, Chevallier, Justyna, Pacheco, Susan E., Jon, Cindy

Journal:

Year:

2013

Language:

english

File:

PDF, 55 KB

english, 2013

26

Lessons learned from the analyses of 1500 mitochondrial genomes by NGS

Zhang, Victor Wei, Li, Fangyuan, Wang, Guoli, Truong, Cavatina K., Yu, Hui, Chen, David, Cui, Hong, Tian, Xia, Wang, Hao, Landsverk, Megan, Wang, Jing, Wong, Lee-Jun

Journal:

Year:

2013

Language:

english

File:

PDF, 65 KB

english, 2013

27

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

Wray, Carter D., Friederich, Marisa W., du Sart, Desiree, Pantaleo, Sarah, Smet, Joél, Kucera, Cathlin, Fenton, Laura, Scharer, Gunter, Van Coster, Rudy, Van Hove, Johan L.K.

Journal:

Year:

2013

Language:

english

File:

PDF, 680 KB

english, 2013

28

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome

El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando

Journal:

Year:

2013

Language:

english

File:

PDF, 123 KB

english, 2013

29

Mitochondrial response to oxidative and nitrosative stress in early stages of diabetes

Noriega-Cisneros, Ruth, Cortés-Rojo, Christian, Manzo-Avalos, Salvador, Clemente-Guerrero, Mónica, Calderón-Cortés, Elizabeth, Salgado-Garciglia, Rafael, Montoya-Pérez, Rocío, Boldogh, Istvan, Saavedr

Journal:

Year:

2013

Language:

english

File:

PDF, 545 KB

english, 2013

30

Mitochondrial translocator protein (TSPO) ligands prevent doxorubicin-induced mechanical dysfunction and cell death in isolated cardiomyocytes

de Tassigny, Alexandra d'Anglemont, Assaly, Rana, Schaller, Sophie, Pruss, Rebecca M., Berdeaux, Alain, Morin, Didier

Journal:

Year:

2013

Language:

english

File:

PDF, 2.70 MB

english, 2013

31

Mitochondrial dysfunction in immune cells derived from children with autism spectrum disorder (ASD): A unique metabolic endophenotype of children with ASD

Frye, Richard E., Rose, Shannon, Slattery, John, Wynne, Rebecca, Tippett, Marie, Melynk, Stephan, James, S. Jill

Journal:

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

32

Phenotype and genotype of deaf patients with combined genomic and mitochondrial inheritance models

Huang, Shasha, Wang, Guojian, Jiang, Yi, Yuan, Yongyi, Han, Dongyi, Song, Yueshuai, Dai, Pu

Journal:

Year:

2013

Language:

english

File:

PDF, 254 KB

english, 2013

33

Cofactor defects as a cause of mitochondrial encephalomyopathies

Mayr, J.A., Freisinger, P., Haack, T., Koch, J., Zimmermann, F., Prokisch, H., Sperl, W.

Journal:

Year:

2013

Language:

english

File:

PDF, 51 KB

english, 2013

34

A bioenergetic profile of non-transformed fibroblasts uncovers a link between death-resistance and enhanced spare respiratory capacity

Nickens, Kristen P., Wikstrom, Jakob D., Shirihai, Orian S., Patierno, Steven R., Ceryak, Susan

Journal:

Year:

2013

Language:

english

File:

PDF, 556 KB

english, 2013

35

Plasmodium falciparum mitochondrial genetic diversity exhibits isolation-by-distance patterns supporting a sub-Saharan African origin

Tanabe, Kazuyuki, Jombart, Thibaut, Horibe, Shun, Palacpac, Nirianne M.Q., Honma, Hajime, Tachibana, Shin-Ichiro, Nakamura, Masatoshi, Horii, Toshihiro, Kishino, Hirohisa, Mita, Toshihiro

Journal:

Year:

2013

Language:

english

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PDF, 642 KB

english, 2013

36

Hybridisation, paternal leakage and mitochondrial DNA linearization in three anomalous fish (Scombridae)

Morgan, Jess A.T., Macbeth, Michael, Broderick, Damien, Whatmore, Paul, Street, Raewyn, Welch, David J., Ovenden, Jennifer R.

Journal:

Year:

2013

Language:

english

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PDF, 703 KB

english, 2013

37

Mitochondrial targeting functional peptides as potential devices for the mitochondrial delivery of a DF-MITO-Porter

Kawamura, Eriko, Yamada, Yuma, Harashima, Hideyoshi

Journal:

Year:

2013

Language:

english

File:

PDF, 548 KB

english, 2013

38

Polymorphic mutations in mouse mitochondrial DNA regulate a tumor phenotype

Takibuchi, Gaku, Imanishi, Hirotake, Morimoto, Mami, Ishikawa, Kaori, Nakada, Kazuto, Toyama-Sorimachi, Noriko, Kikkawa, Yoshiaki, Takenaga, Keizo, Hayashi, Jun-Ichi

Journal:

Year:

2013

Language:

english

File:

PDF, 922 KB

english, 2013

39

Long-term therapy with Bendavia (MTP-131), a novel mitochondria-targeting peptide, normalizes functional mitochondrial abnormalities in left ventricular myocardium of dogs with heart failure

Sabbah, Hani N., Gupta, Ramesh C., Rastogi, Sharad, Wang, Mengjum, Zhang, Keife

Journal:

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

40

Predicted ionisation in mitochondria and observed acute changes in the mitochondrial transcriptome after gamma irradiation: A Monte Carlo simulation and quantitative PCR study

Kam, Winnie Wai-Ying, McNamara, Aimee L., Lake, Vanessa, Banos, Connie, Davies, Justin B., Kuncic, Zdenka, Banati, Richard B.

Journal:

Year:

2013

Language:

english

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PDF, 1016 KB

english, 2013

41

Improved diagnosis of mitochondrial disorders by next generation sequencing approach

Wong, Lee-Jun, Tian, Xia, Feng, Yanming, Wang, Jing, Zhang, Victor Wei

Journal:

Year:

2013

Language:

english

File:

PDF, 63 KB

english, 2013

42

Role of the mitochondrial protein LRPPRC2 in Drosophila melanogaster

Baggio, Francesca, Bratic, Ana, Mourier, Arnaud, Kukat, Christian, Habermann, Bianca, Partridge, Linda, Larsson, Nils-Göran

Journal:

Year:

2013

Language:

english

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PDF, 50 KB

english, 2013

43

Capacity for oxidative phosphorylation does not decline with age in mitochondria from ndufs4 knockout mice

Kayser, Ernst-Bernhard, Johnson, Simon C., Kaeberlein, Matt R., Sedensky, Margaret M., Morgan, Philip G.

Journal:

Year:

2013

Language:

english

File:

PDF, 71 KB

english, 2013

44

Photobiomodulation preserves mitochondrial redox state in a rodent model of retinitis pigmentosa

Eells, J.T., Gopalakrishnan, S., Maleki, S., Ranji, M., Abroe, B., Schmitt, H., Summerfelt, P., Dubis, A., Carroll, J.

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Year:

2013

Language:

english

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PDF, 57 KB

english, 2013

45

Idebenone treatment for Leber hereditary optic neuropathy — Past, present, and future

Yu-Wai-Man, Patrick, Klopstock, Thomas, Metz, Günther, Büchner, Boriana, Gallenmüller, Constanze, Bailie, Maura, Nwali, Nwanyieze, Griffiths, Philip G., von Livonius, Bettina, Reznicek, Lukas, Rouleau

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Year:

2013

Language:

english

File:

PDF, 54 KB

english, 2013

46

The purinergic life threat response: Metabolic features

Zolkipli, Zarazuela, Nakayama, Tomohiro, Le, Thuy P., Naviaux, Robert K.

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Year:

2013

Language:

english

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PDF, 67 KB

english, 2013

47

Heteroplasmic ATPase 6 T8993A mutation and mitochondrial disease: A novel mutation present in muscle, blood, saliva, urine and fibroblasts

Nakayama, Tomohiro, Zolkipli, Zarazuela, Haas, Richard

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Year:

2013

Language:

english

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PDF, 47 KB

english, 2013

48

Inheritance of mtDNA heteroplasmy: Does Kimura's solution work?

Chalkia, Dimitra, Wallace, Douglas

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Year:

2013

Language:

english

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PDF, 44 KB

english, 2013

49

Mitochondrial dysfunction in autism fibroblasts

Coskun, Pinar E., Nemantinejad, Zahra, Schwarts, Phillip H., Brick, David J., Busciglio, Jorge

Journal:

Year:

2013

Language:

english

File:

PDF, 69 KB

english, 2013

50

Mitochondrial encephalopathies in epilepsy: A case series

Goldstein, Amy C., Asato, Miya, Bansal, Lalit, Vento, Jodie, Zuccoli, Giulio

Journal:

Year:

2013

Language:

english

File:

PDF, 51 KB

english, 2013

51

Clinical exome sequencing leads to the diagnosis of mitochondrial complex I deficiency in a family with global developmental delays, ataxia, and cerebellar and pons hypoplasia

Kimonis, Virginia, Gonzalez, Kelly, Zeng, Wenqi, Gray, Phillip, Tang, Sha, Wei, Jennifer, Li, X., Lu, HM., Lu, H., Chao, Elizabeth

Journal:

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

52

Preterm birth is associated with mitochondrial DNA variation

Chalkia, Dimitra, Lowery, Ray, Derbeneva, Olga, Lvova, Masha, Sing, Charles, Shimmin, Lawrence, Hixson, James, Simham, Hyagriv, Wadhwa, Pathik, Wallace, Douglas

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Year:

2013

Language:

english

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PDF, 62 KB

english, 2013

53

Mutations in the complex III assembly factor tetratricopeptide 19 gene TTC19 are a rare cause of Leigh syndrome

Atwal, P.S., Schelley, S., Enns, G.M.

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Year:

2013

Language:

english

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PDF, 49 KB

english, 2013

54

La3+ and bivalent metals inhibited Tl+-induced mitochondrial permeability transition pore

Brailovskaya, Irina V., Konovalova, Svetlana A.

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Year:

2013

Language:

english

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PDF, 57 KB

english, 2013

55

Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiency

Bourton, Audrey, Bonafé, Luisa, Baumgartner, Matthias, Kerr, Douglas, Zeviani, Massimo, Manco, Giuseppe, Brivet, Michele, Brunetti-Pierri, Nicola

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Year:

2013

Language:

english

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PDF, 52 KB

english, 2013

56

Utilization of clinical diagnostic exome sequencing for the molecular diagnosis of mitochondrial disorders and therapeutic implications

Tang, Sha, Gonzalez, Kelly D.F., Zeng, Wenqi, Shahmirzadi, Layla, Wei, Jennifer J., Li, Xiang, Chao, Elizabeth C.

Journal:

Year:

2013

Language:

english

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PDF, 75 KB

english, 2013

57

Mutations in choline-O-acetyltransferase are associated with treatable cognitive decline, dysautonomia, and adverse medication responses — Time to CHAT with your patients?

Wong, Stacey, Sheldon, Katherine, Boles, Richard

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Year:

2013

Language:

english

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PDF, 74 KB

english, 2013

58

FGF-21 secretion and ketogenic enzyme expression are hallmarks of chronic energy deficiency in human skeletal muscles depleted of iron sulfur clusters

Crooks, Daniel R., Natarajan, Thanemozhi G., Chen, Chuming, Huang, Hongzhan, Ghosh, Manik C., Tong, Wing-Hang, Haller, Ronald G., Wu, Cathy, Rouault, Tracey A.

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Year:

2013

Language:

english

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PDF, 51 KB

english, 2013

59

Multiple mtDNA heteroplasmic SNPs as a marker for mitochondrial dysfunction

Zare, Amir, Sheldon, Katherine M., Susswein, Lisa, Boles, Richard G.

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Year:

2013

Language:

english

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PDF, 48 KB

english, 2013

60

Modeling mitochondrial cardiomyopathy using human ANT1 deficient iPSC-derived cardiomyocytes

Ortiz-Gonzalez, Xilma R, Mills, Jason A., Wallace, Douglas C.

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Year:

2013

Language:

english

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PDF, 412 KB

english, 2013

61

First-line genetic testing for mitochondrial disorders in the next-generation sequencing era: Comprehensive known disease gene panel or exome sequencing?

Bai, Renkui, Haverfield, Eden, Higgs, Jaimie, Suchy, Sharon F., Arjona, Dolores, Retterer, Kyle, Smaoui, Nizar, Richard, Gabriele, Bale, Sherri, Kendall, Fran D., Parikh, Sumit, Gropman, Andrea L., Ha

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Year:

2013

Language:

english

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PDF, 52 KB

english, 2013

62

Chronic progressive external ophthalmoplegia — Disease mechanisms and clinical outcome measures

Griffiths, Philip G., Yu-Wai-Man, Cynthia, Smith, Fiona E., Firbank, Michael J., Guthrie, Grant, Guthrie, Stuart, Gorman, Grainne S., Taylor, Robert W., Turnbull, Douglass M., Blamire, Andrew M., Chin

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Year:

2013

Language:

english

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PDF, 76 KB

english, 2013

63

Novel c.316G>C mutation in PDHA1 causes PDH deficiency

Khouzam, Amirah, Platt, Julia, Cox, Rachel, Enns, Gregory M.

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Year:

2013

Language:

english

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PDF, 55 KB

english, 2013

64

Corrigendum to ‘Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases’ [Mitochondrion 12/6 (2012) 623–629]

Stacpoole, Peter W., deGrauw, Ton J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.

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Year:

2013

Language:

english

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PDF, 145 KB

english, 2013

65

Bioenergetic profiling of human breast cancer: Unusual organization of the respiratory chain

Koit, Andre, Tepp, Kersti, Timohhina, Natalja, Shevchuk, Igor, Chekulayev, Vladimir, Bogovskaja, Jelena, Valvere, Vahur, Saks, Valdur, Kaambre, Tuuli

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Year:

2013

Language:

english

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PDF, 55 KB

english, 2013

66

The Mitochondrial Disease Biobank at Mayo Clinic: Three mighty years and counting

Hasadsri, Linda, Eisenberg, Leah R., Anderson, Claire, Hesemann, Jennifer, Schultz, Emily, Edwards, Kelly K., Bryant, Sandra C., Highsmith, W. Edward, Oglesbee, Devin

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Year:

2013

Language:

english

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PDF, 98 KB

english, 2013

67

Pyrrole-imidazole polyamide, a synthetic DNA-binding compound, is effective at increasing levels of wild-type mtDNA in both cybrid cells and MELAS patient-derived fibroblast cells with the MELAS A3243G mutation by a selective promotion of wild-type replication

Yano, Takamitsu, Takeuchi-Tomita, Nono, Ueda, Takuya, Haas, Richard H.

Journal:

Year:

2013

Language:

english

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PDF, 61 KB

english, 2013

68

Sengers syndrome is caused by a deficiency of the acylglycerol kinase

Sperl, W., Mayr, J.A., Haack, T.B., Zimmermann, F.A., Meitinger, T., Prokisch, H.

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Year:

2013

Language:

english

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PDF, 50 KB

english, 2013

69

Deciphering the respiratory Complex I assembly pathway

Vartak, Rasika, Deng, Janice, Bai, Yidong

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Year:

2013

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english

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PDF, 48 KB

english, 2013

70

Regulation of respiration of human colorectal cancer: Application of metabolic control analysis

Kaldma, Andrus, Koit, Andre, Ševtšuk, Igor, Tšekulajev, Vladimir, Tepp, Kersti, Timohhina, Natalja, Bogovskaja, Jelena, Valvere, Vahur, Saks, Valdur, Kaambre, ja Tuuli

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Year:

2013

Language:

english

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PDF, 49 KB

english, 2013

71

Adult-onset dilated cardiomyopathy as the primary manifestation of mitochondrial m.3243A>G mutation with heart-specific high mutation load

Arjona, Dolores, Shanmugham, Anita, Bai, Renkui, Chung, Wendy

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Year:

2013

Language:

english

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PDF, 49 KB

english, 2013

72

Cellular and bioenergetic dysfunction induced by loss of the Wolfram Syndrome protein, Miner1, can be reversed by treatment with N-acetylcysteine

Wiley, Sandra E., Andreyev, Alexander Y., Divakaruni, Ajit S., Karisch, Robert, Perkins, Guy, van der Geer, Peter, Tsai, Ting-Fen, Simon, Melvin I., Neel, Benjamin G., Dixon, Jack E., Murphy, Anne N.

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Year:

2013

Language:

english

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PDF, 43 KB

english, 2013

73

Mitochondrial myopathy presenting as acute lactic acidosis with motor and sensory axonal polyneuropathy

Du, Ailian, Zhou, Ying, Shao, Yuquan, Wu, Zhiying

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Year:

2013

Language:

english

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PDF, 50 KB

english, 2013

74

Towards harmonization of outcome measures in children with mitochondrial disorders

Koene, Saskia, Jansen, Merel, Verhaak, Chris M., de Vrueh, Remco L.A., de Groot, Imelda J.M., Smeitink, Jan A.M.

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Year:

2013

Language:

english

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PDF, 49 KB

english, 2013

75

Acute, pharmacologic inhibition of the mitochondrial pyruvate carrier enhances cellular glucose uptake and potentiates metabolic flexibility

Divakaruni, Ajit S., Wiley, Sandra E., Rogers, George W., Simon, Melvin I., Ciaraldi, Theodore P., Murphy, Anne N.

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Year:

2013

Language:

english

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PDF, 56 KB

english, 2013

76

A specific combination of phytoestrogens ameliorates the mitochondrial dysfunction in Leber's hereditary optic neuropathy

Pisano, Annalinda, Tropeano, Valentina, Preziuso, Carmela, Mancini, Massimiliano, Petruzziello, Luciano, Petrozza, Vincenzo, Ghelli, Anna, Carelli, Valerio, Giordano, Carla

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Year:

2013

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english

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english, 2013

77

Analysis of mtDNA multiple deletions in 209 muscle specimens using massively parallel sequencing (MPS)

Li, Fang-Yuan, Tian, Xia, Milone, Margherita, Cui, Hong, Zhang, Victor Wei, Wong, Lee-Jun

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Year:

2013

Language:

english

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english, 2013

78

Severe multi-systemic presentation of COX10 deficiency

Wilnai, Yael, Cox, Rachel, Bai, Renkui, Enns, Gregory M.

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2013

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english

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english, 2013

79

Respiratory complex I and IV dysfunction is associated with Phelan–McDermid syndrome

Frye, Richard E., Damle, Shirish, Goldenthal, Michael J.

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Year:

2013

Language:

english

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english, 2013

80

Developmental exposure to ultraviolet C radiation results in altered energy production later in life in Caenorhabditis elegans

Rooney, John P., Bodhicharla, Rakesh, Bess, Amanda S., Leung, Maxwell C.K., Ryde, Ian T., Ji, Alex Q., Meyer, Joel N.

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Year:

2013

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english

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english, 2013

81

Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study

Goldstein, Amy, Bay, Carolyn, Sowry, Ellen, McDonald, Lee-Ann, DelVecchio, Maria, Vento, Jodie, Shanske, Sara, Hirano, Michio, DiLorenzo, Carlo

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Year:

2013

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english

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english, 2013

82

Effect on glycolysis and glucose transporters of transplanted isolated normal mitochondria from MCF-12A cells into breast cancer cells

Elliott, Robert L., Jiang, Xian P., Head, Jonathan F.

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Year:

2013

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english

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english, 2013

83

Hepatic cirrhosis & neurological deficits in a male with de novo heteroplasmic mitochondrial DNA mutation

Niyazov, D., Serrano, M., Reichman, T.

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Year:

2013

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english

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english, 2013

84

Defective thiolation impairs mitochondrial translation offering a therapy approach in reversible infantile respiratory chain deficiency

Boczonadi, Veronika, Smith, Paul M., Chinnery, Patrick F., Horvath, Rita

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Year:

2013

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english

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english, 2013

85

Dissecting the pathways to increase mitochondrial biogenesis for the treatment of mitochondrial myophathies

Peralta, Susana, Moraes, Carlos T.

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Year:

2013

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english

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english, 2013

86

Comparative aspects of bioenergetic profiling of tumor clinical material and cell cultures

Shevchuk, Igor, Koit, Andre, Kaldmaa, Andrus, Timohhina, Natalja, Chekulayev, Vladimir, Tepp, Kersti, Bogovskaja, Jelena, Valvere, Vahur, Saks, Valdur, Kaambre, Tuuli

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Year:

2013

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english

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english, 2013

87

Effects of anesthesia in patients with primary mitochondrial disorders

Song, Shiwei, Niezgoda, Julie, Parikh, Sumit

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Year:

2013

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english

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english, 2013

88

Cd(2+)-induced injury of rat ascites hepatoma AS-30D cells: A possible involvement of Ca(2+)-activated large-conductance potassium channels

Belyaeva, Elena A.

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Year:

2013

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english

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english, 2013

89

Serum Fibroblast Growth Factor 21 (FGF-21) levels: Is there a correlation with disease severity and disease progression in m.3243A>G carriers?

Koene, Saskia, de Laat, Paul, Vriens, Dennis, van Tienoven, Doorlene H., Brandt, André M., Sweep, Fred C.G.J., Borm, George, Janssen, Mirian C.H., Smeitink, Jan A.M.

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Year:

2013

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english

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english, 2013

90

Complex I and its importance in Parkinson's disease: A review of the literature

Narayanan, Chockalingam A.

Journal:

Year:

2013

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english

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english, 2013

91

Exome sequencing as an approach to identify disease causing mutations in pediatric patients with mitochondrial diseases

Haack, T., Strom, T., Freisinger, P., Ahting, U., Rolinski, B., Mayr, J., Sperl, W., Meitinger, T., Prokisch, H.

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Year:

2013

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english

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english, 2013

92

Novel disease associations and novel disease-associated genes elucidated among MitoCarta gene sequencing in 183 probands

Boles, Richard G., Sheldon, Katherine M., Trifiletti, Rosario R.

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Year:

2013

Language:

english

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english, 2013

93

Trapping and study of individual mitochondria using nanofluidic technology

Zand, Katayoun, Pham, Ted, Davila, Antonio, Wallace, Douglas, Burke, Peter

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Year:

2013

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english

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english, 2013

94

Pilot study: Modified Atkins diet trial for adult-onset mitochondrial myopathy

Ahola-Erkkilä, Sofia, Auranen, Mari, Isohanni, Pirjo, Lundbom, Nina, Piirilä, Päivi, Pietiläinen, Kirsi, Suomalainen, Anu

Journal:

Year:

2013

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english

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english, 2013

95

Enhanced detection sensitivity and diagnostic yield for mtDNA deletion syndrome by massively parallel sequencing

Wang, Guo-Li, Li, Fang-Yuan, Zhang, Victor Wei, Wang, Jing, Wong, Lee-Jun

Journal:

Year:

2013

Language:

english

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english, 2013

96

Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients

Freisinger, P., Mayr, J.A., Scheffner, T., Makowski, C., Koch, J., Ahting, U., Zimmermann, F.A., Schlachter, K., Prokisch, H., Sperl, W.

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Year:

2013

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english

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english, 2013

97

The complexity of heterozygous POLG2 mutations associated with human mitochondrial disease

Young, Matthew J., Sun, Kathie Y., Humble, Maggie M., Copeland, William C.

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Year:

2013

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english

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english, 2013

98

Novel mutation in the mitochondrial transfer RNACys gene in a child with vomiting and migraine

Almeida, Lígia S., Martins, Esmeralda, Santorelli, Filippo M., Vilarinho, Laura

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Year:

2013

Language:

english

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english, 2013

99

The role of Parkin in the clearance of defective mitochondria with deleted mtDNA in the CNS

Milena, Pinto, Pickrell, Alicia M., Youle, Richard J., Moraes, Carlos T.

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Year:

2013

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english

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english, 2013

100

Decreased exhaled nitric oxide levels in patients with mitochondrial disorders

Mosquera, Ricardo A., Samuels, Cheryl L., Harris, Tomika S., Yadav, Aravind, Hashmi, Syed S., Knight, Melissa S., Jon, Cindy K., Koenig, Mary Kay

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Year:

2013

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english

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english, 2013

101

Six minute bicycling test in children with mitochondrial disorders: Feasibility, reliability, validity and responsivity

Koene, Saskia, Jansen, Merel, Wortmann, Saskia B., de Vries, Maaike C., de Groot, Imelda J.M., Smeitink, Jan

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Year:

2013

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english

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english, 2013

102

N-acetylcysteine reverses the mitochondrial toxicity of very long chain fatty acids (VLCFAs) in murine oligodendrocytes

Zhou, Jie, Orchard, Paul, Cloyd, James, Kartha, Reena V.

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2013

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english

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english, 2013

103

Oral complex 1 inhibitory challenge reveals diverse human phenotypes

Journal:

Year:

2013

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english

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english, 2013

104

The effects of BDNF supplementation on polymerase gamma (POLG) 1 mutator mice

Saleem, Ayesha, Gomez, Andrew, Hettinga, Bart, Crane, Justin, Steinberg, Greg, Tarnopolsky, Mark A.

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Year:

2013

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english

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english, 2013

105

Nuclear genome transfer in human oocytes to prevent transmission of mtDNA mutations

Paull, Daniel, Emmanuele, Valentina, Sauer, Mark V., Hirano, Michio, Egli, Dieter

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Year:

2013

Language:

english

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english, 2013

106

Discovery of modulators of oxygen consumption for use in mitochondrial disease

Sahdeo, Sunil, Cortopassi, Gino

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Year:

2013

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english

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english, 2013

107

Resveratrol improves mitochondrial functions in respiratory chain-deficient cells

Costa, Alexandra Lopes, Le Bachelier, Carole, Rötig, Agnès, Boneh, Avihu, De Lonlay, Pascale, Tarnopolsky, Mark A., Thorburn, David, Bastin, Jean, Djouadi, Fatima

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Year:

2013

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english

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english, 2013

108

Oxidative stress triggers mitochondrial mediated retrograde signaling by activating its translocation and function switching

Miriyala, Sumitra, Panchatcharam, Manikandan, Batinic-Haberele, Ines, Clair, Daret St.

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Year:

2013

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english

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english, 2013

109

A genome-wide RNAi screening to identify new genes involved in mitochondrial diseases

Journal:

Year:

2013

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english

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english, 2013

110

Next-generation sequencing identifies novel, potentially pathogenic variants in nuclear-encoded respiratory chain subunits not previously implicated in mitochondrial disease

Leighton, Justin W., Penn, John, DaRe, Jeana

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Year:

2013

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english

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english, 2013

111

Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism

Niemi, Natalie M., Pagliarini, David J.

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Year:

2013

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english

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english, 2013

112

Allotopic expression of algal ATP6 improves longevity and locomotor functions in a Drosophila mitochondrial encephalomyopathy model

Chiu, Wai Kan (Karen), Palladino, Michael J.

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Year:

2013

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english

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english, 2013

113

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia

Pureza, Vincent, Hasadsri, Linda, Highsmith, W. Edward, Oglesbee, Devin

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Year:

2013

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english

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english, 2013

114

Therapy for mitochondrial diseases: An investigation into the potential to stimulate Parkin-mediated mitophagy

Pickrell, Alicia M, Huang, Chiu-Hui, Pinto, Milena, Moraes, Carlos T., Youle, Richard J.

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Year:

2013

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english

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english, 2013

115

Summary of the mitochondrial findings in a series of 300 cases

Xu, Shiqin, Vu, Nhi Huong T., Chao, Elizabeth, Simon, Mariella, Zoleikhaeian, Mehrdad, Kimonis, Virginia, Huang, Taosheng, Mozaffar, Tahseen, Wallace, Douglas C

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Year:

2013

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english

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english, 2013

116

Preserving mitochondrial function during acute coronary syndromes with the mitochondria-targeting peptide Bendavia

Brown, David A., Patel, Hetal D., Moukdar, Fatiha, Shaikh, Saame Raza, Harris, Mitchel, Fisher-Wellman, Kelsey, Neufer, P. Darrell, Hale, Sharon L., Dai, Wangde, Kloner, Robert A.

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Year:

2013

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english

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english, 2013

117

The need for careful diagnosis of congenital myasthenic syndromes with secondary complex I disorders

Menezes, Minal J., Menezes, Manoj P., Riley, Lisa, Cooper, Sandra, Christodoulou, John

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2013

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english

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english, 2013

118

The mitochondrial gas pedal: Cytosolic calcium regulates energization of neuronal mitochondria by formation of pyruvate through the malate aspartate shuttle: Physiological and pathophysiological consequences

Gellerich, F.N., Gizatullina, Z., Debska-Vielhaber, G., Gaynutdinov, Timur, Muth, Katharina, König, R., Riek-Burchardt, M., Vielhaber, S.

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Year:

2013

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english

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119

Whole mitochondrial genome amplification and next generation sequencing for the diagnosis of mitochondrial disorders: Yield of 613 cases

Bai, Renkui, Higgs, Jaimie, Suchy, Sharon, Arjona, Dolores, Smaoui, Nizar, Richard, Gabriele, Compton, John, Bale, Sherri, Parikh, Sumit, Tarnopolsky, Mark, Chung, Wendy K.

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2013

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english

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120

FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A., Biagosch, Caroline, Shamseldin, Hanah, Tsukikawa, Mai, Sheldon, Claire, Srinivasan, Satish, Haack, Tobias, Gorza, Matteo, Wieland, Thomas, Strom, Tim, P

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2013

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english

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121

Failure to thrive in children with mitochondrial diseases

Wolfe, Lynne A., Regier, Debra, Saneto, Russell, Parikh, Sumit, Goldstein, Amy, Boerkorl, Neal

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2013

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english

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122

Targeted massively parallel sequencing detects exonic copy number changes in patients with mitochondrial disorders

Feng, Yanming, Wang, Guoli, Zhang, Victor Wei, Wong, Lee-Jun

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Year:

2013

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english

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english, 2013

123

Diet influences the intake target and mitochondrial functions of Drosophila melanogaster males

Pichaud, Nicolas, Messmer, Marie, Correa, Carolina C., Ballard, J. William O.

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Year:

2013

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english

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124

Mitochondrial SIRT4-type proteins in Caenorhabditis elegans and mammals interact with pyruvate carboxylase and other acetylated biotin-dependent carboxylases

Wirth, Martina, Karaca, Samir, Wenzel, Dirk, Ho, Linh, Tishkoff, Daniel, Lombard, David B., Verdin, Eric, Urlaub, Henning, Jedrusik-Bode, Monika, Fischle, Wolfgang

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Year:

2013

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english

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english, 2013

125

Mitochondrial NGS panels: Is more better?

Platt, Julia, Cox, Rachel, Enns, Gregory M.

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2013

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english

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126

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Neeve, Vivienne C.M., Pyle, Angela, Boczonadi, Veronika, Gomez-Duran, Aurora, Griffin, Helen, Santibanez-Koref, Mauro, Gaiser, Ulrike, Bauer, Peter, Tzschach, Andreas, Chinnery, Patrick F., Horvath, R

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2013

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english

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127

Mitochondrial insufficiency is associated with autonomic nervous system dysfunction as confirmed by physiologic Head up Tilt table test (HUTT)

Numan, Mohammed, Butler, Ian, Martinez, Rebecca, Knight, Melissa, Memon, Nada, Koenig, Mary K.

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2013

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english

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english, 2013

128

Personalized dosing of dichloroacetate based on haplotype variations glutathione transferase zeta 1

Shroads, A.L., Langaee, T., Coats, B., Stacpoole, P.W.

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2013

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english

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129

Development of a high-throughput screen for discovery of LHON therapeutics

Datta, Sandipan, Cortopassi, Gino

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2013

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english

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english, 2013

130

Generation of patient-specific differentiated cells from fibroblast-derived hiPSCs for studying treatment of mitochondrial disease

Ainza, Carlos A., Le, Thuy, Parker, James, Ambasudhan, Rajesh, Nakayama, Tomohiro, Naviaux, Robert K., Lipton, Stuart A., Chen, H.-S. Vincent, Haas, Richard H.

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Year:

2013

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english

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english, 2013

131

Type II Fp of human mitochondrial respiratory complex II and its role in adaptation to hypoxia and nutrition-deprived conditions

Sakai, Chika, Tomitsuka, Eriko, Miyagishi, Makoto, Harada, Shigeharu, Kita, Kiyoshi

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Year:

2013

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english

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english, 2013

132

Interactions between peptidyl tRNA hydrolase homologs and the ribosomal release factor Mrf1 in S. pombe mitochondria

Dujeancourt, Laurent, Richter, Ricarda, Chrzanowska-Lightowlers, Zofia M., Bonnefoy, Nathalie, Herbert, Christopher J.

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Year:

2013

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english

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english, 2013

133

A mouse model of mitochondrial myopathy and sideroblastic anemia

Elkes, Johnathon, Campagna, Dean R., Carson, James, Bykovskya, Yelena, Fischel-Ghodsian, Nathan, Lidov, Hart G.W., Fleming, Mark D., Patton, Jeffrey R.

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Year:

2013

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english

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134

A novel SUCLA2 mutation in a Portuguese patient

Nogueira, Célia, Garcia, Paula, Diogo, Luísa, Valongo, Carla, Santorelli, Filippo M., Vilarinho, Laura

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2013

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english

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english, 2013

135

A human reprogrammed-cell model of MELAS

Ambasudhan, Rajesh, Parker, James, Ainza, Carlos, Dolatabadi, Nima, Ryan, Scott, Le, Thuy, Lipton, Stuart A, Haas, Richard H

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Year:

2013

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english

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english, 2013

136

Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families

Zhang, Juanjuan, Zhao, Fuxin, Fu, Qun, Liang, Min, Tong, Yi, Liu, Xiaoling, Lin, Bei, Mi, Hui, Zhang, Minglian, Wei, Qi-Ping, Xue, Ling, Jiang, Pingping, Zhou, Xiangtian, Mo, Jun Qin, Huang, Taosheng,

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Year:

2013

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english

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137

The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer

Engelstad, Kristin, Sklerov, Miriam, Sanford, Alexandra, Grier, Johnston, Egli, Dieter, DiMauro, Salvatore, Thompson, John L.P., Sauer, Mark, Hirano, Michio

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138

Editorial Board

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Year:

2013

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english

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139

Mitochondrial gene therapy approaches for understanding and treating Leber's hereditary optic neuropathy

Iyer, Shilpa, Gnaiger, Erich, Rao, Raj R.

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2013

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english

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english, 2013

140

Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis

Govatati, Suresh, Deenadayal, Mamata, Shivaji, Sisinthy, Bhanoori, Manjula

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Year:

2013

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english

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english, 2013

141

CHCHD2, a bi-genomic regulator of mitochondrial metabolism

Aras, Siddhesh, Hüttemann, Maik, Lee, Icksoo, Grossman, Lawrence I.

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2013

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english

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142

Autosomal-recessive Kearns–Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defect

Wilichowski, Ekkehard, Abicht, Angela, Mayr, Hans, Horvath, Rita, Sperl, Wolfgang, Gärtner, Jutta

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2013

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english

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143

Predisposition to infection and SIRS in oxidative phosphorylation disorders: 8years' experience of a New England cohort at Massachusetts General Hospital and partners affiliates

Walker, Melissa A., Slate, Nancy, Lax, Timothy, Alejos, Alexandra, Volpi, Stefano, Sweetser, David, Sims, Katherine, Walter, Jolan E.

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2013

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english

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144

A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations

Ortega-Recalde, Oscar, Fonseca, Dora Janeth, Patiño, Liliana Catherine, Atuesta, Juan Jaime, Rivera-Nieto, Carolina, Restrepo, Carlos Martín, Mateus, Heidi Eliana, van der Knaap, Marjo S., Laissue, Pa

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2013

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english

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145

BCoR-L1: an X-linked transcriptional co-repressor in which mutations cause multi-systemic mitochondrial disease with mtDNA depletion

Sheldon, Claire A., Polyak, Erzsebet, Tsukikawa, Mai, McCormick, Elizabeth, Place, Emily, Consugar, Marc, Pierce, Eric, Gai, Xiaowu, Falk, Marni J.

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Year:

2013

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english

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146

Phenotypic spectrum of 7 patients and 4 novel MTFMT mutations

Freisinger, P., Haack, T., Mayr, J., Plecko, B., Ahting, U., Rolinski, B., Willichowski, E., Sperl,, Prokisch, H.

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Year:

2013

Language:

english

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english, 2013

147

Caenorhabditis elegans ATR checkpoint kinase ATL-1 influences life span through mitochondrial maintenance

Suetomi, Kazuhiro, Mereiter, Stefan, Mori, Chihiro, Takanami, Takako, Higashitani, Atsushi

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2013

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english

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148

Specific reduction of mutant mitochondrial genomes load in patient-derived cells by mitoTALENs

Bacman, Sandra R., Williams, Sion L., Pinto, Milena, Peralta, Susana, Moraes, Carlos T.

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2013

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english

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english, 2013

149

The role of an unconventional ribosomal protein in mitochondrial function

Richman, Tara R., Scott, Louis, Davies, Stefan M.K., Rackham, Oliver, Filipovska, Aleksandra

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2013

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english

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english, 2013

150

Redefining Wolfram syndrome in the molecular Era

Guthrie, Grant, Sitarz, Kamil S., Pyle, Angela, Horvath, Rita, Griffiths, Philip G., Chinnery, Patrick F., Yu-Wai-Man, Patrick

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Year:

2013

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english

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151

Bezafibrate as treatment option in patients with mitochondrial complex I deficiency

Freisinger, P., Haberberger, B., Strecker, V., Steger, M., Heim, K., Ahting, U., Rolinski, B., Mayr, J., Rötig, A., Sperl, W., Zeviani, M., Wittig, I., Meitinger, T., Prokisch, H.

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Year:

2013

Language:

english

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152

Clinical re-sequencing for the diagnosis of mitochondrial disorders reveals high genetic heterogeneity

DaRe, Jeana T., Vasta, Valeria, Penn, John, Leighton, Justin, Hahn, Si Houn

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2013

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english

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english, 2013

153

Elucidating the role of mitochondrial Tdp1 in response to oxidative stress

Fam, Hok Khim, Chowdhury, Miraj K., Walton, Cheryl, Choi, Kunho, Hendson, Glenda, Boerkoel, Cornelius F.

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2013

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english

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154

Chemically-induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells

Riazifar, Hamidreza, Jia, Yousheng, Chen, Jing, Lynch, Gary, Huang, Taosheng

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2013

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english

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english, 2013

155

Bendavia, a novel peptide that improves mitochondrial function and reverses diabetes visual decline

Alam, Nazia, Prusky, Glen

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2013

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english

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english, 2013

156

Region specific differences in oxidative phosphorylation in mitochondria from Ndufs4 knockout mice

Morgan, Philip G., Kayser, Ernst-Bernhard, Sedensky, Margaret

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Year:

2013

Language:

english

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english, 2013