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1

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly

van Bon, B. W. M., Oortveld, M. A. W., Nijtmans, L. G., Fenckova, M., Nijhof, B., Besseling, J., Vos, M., Kramer, J. M., de Leeuw, N., Castells-Nobau, A., Asztalos, L., Viragh, E., Ruiter, M., Hofmann

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 4.63 MB

english, 2013

2

Endogenous Cytokinins in Flower Bud Forming Explants of Tobacco

VAN DER KRIEKEN, W. M., VAN ELDIK, G., NIJTMANS, L., CROES, A. F., WULLEMS, G. J.

Journal:

Journal of Experimental Botany

Year:

1991

Language:

english

File:

PDF, 357 KB

english, 1991

3

Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans

Daniela van den Ecker, Mariël A. van den Brand, Gerke Ariaans, Michael Hoffmann, Olaf Bossinger, Ertan Mayatepek, Leo G. Nijtmans, Felix Distelmaier

Journal:

Year:

2012

Language:

english

File:

PDF, 621 KB

english, 2012

4

37 Mitochondrial dynamics and function

Werner J.H. Koopman, Leo G. Nijtmans, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

5

Disrupting Mitochondrial-Nuclear Coevolution Affects OXPHOS Complex I Integrity and Impacts Human Health

Gershoni, M., Levin, L., Ovadia, O., Toiw, Y., Shani, N., Dadon, S., Barzilai, N., Bergman, A., Atzmon, G., Wainstein, J., Tsur, A., Nijtmans, L., Glaser, B., Mishmar, D.

Journal:

Genome Biology and Evolution

Year:

2014

Language:

english

File:

PDF, 914 KB

english, 2014

6

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

Peter Vreken, Fredoen Valianpour, Leo G. Nijtmans, Les A. Grivell, Barbara Plecko, Ronald J.A. Wanders, Peter G. Barth

Journal:

Biochemical and Biophysical Research Communications

Year:

2000

Language:

english

File:

PDF, 117 KB

english, 2000

7

26 A novel mitochondrial ATP 8 (MT-ATP8) gene mutation in a patient with neuropathy and cardiomyopathy

A.I. Jonckheere, M. Hogeveen, L.G.J. Nijtmans, M.A. van den Brand, A.J.M. Janssen, H. Diepstra, F.C.A. van den brandt, L.P. van den Heuvel, F. Hol, M.H. Siers, J.A.M. Smeitink, R. Rodenburg

Journal:

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

8

Mitochondrial assembly in yeast

Les A Grivell, Marta Artal-Sanz, Gertjan Hakkaart, Liesbeth de Jong, Leo G.J Nijtmans, Katinka van Oosterum, Michel Siep, Hans van der Spek

Journal:

Year:

1999

Language:

english

File:

PDF, 205 KB

english, 1999

9

Stoornissen in de oxidatieve fosforylering: kliniek, diagnostiek en research

M. C. de Vries, E. Morava, M. Hogeveen, R. J. Rodenburg, L. P. W. van den Heuvel, H. J. ter Laak, M. Lammens, L. G. Nijtmans, P. H. Willems, J. A. M. Smeitink

Journal:

Tijdschrift voor Kindergeneeskunde

Year:

2006

File:

PDF, 1.82 MB

2006

10

Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects

Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 390 KB

english, 2009

11

Assembly of mitochondrial ATP synthase in cultured human cells: implications for mitochondrial diseases

Leo G.J. Nijtmans, Petr Klement, Josef Houštěk, Coby van den Bogert

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 1.39 MB

english, 1995

12

Mitochondrial Complex V Expression and Activity in Cystinotic Fibroblasts

Wilmer, Martijn J, van den Heuvel, Lambertus P, Rodenburg, Richard J, Vogel, Rutger O, Nijtmans, Leo G, Monnens, Leo A, Levtchenko, Elena N

Journal:

Pediatric Research

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

13

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

Cristina Ugalde, Ralf H. Triepels, Marieke J.H. Coenen, Lambert P. Van Den Heuvel, Roel Smeets, Johanna Uusimaa, Paz Briones, Jaume Campistol, Kari Majamaa, Jan A.M. Smeitink, Leo G.J. Nijtmans

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 335 KB

english, 2003

14

Blue native electrophoresis to study mitochondrial complex I in C. elegans

Daniela van den Ecker, Mariël A. van den Brand, Olaf Bossinger, Ertan Mayatepek, Leo G. Nijtmans, Felix Distelmaier

Journal:

Analytical Biochemistry

Year:

2010

Language:

english

File:

PDF, 240 KB

english, 2010

15

NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I

Radek Szklarczyk, Bas F.J. Wanschers, Sander B. Nabuurs, Jessica Nouws, Leo G. Nijtmans, Martijn A. Huynen

Journal:

Year:

2011

Language:

english

File:

PDF, 919 KB

english, 2011

16

Effects of the modulating agent WR2721 and its main metabolites on the formation and stability of cisplatin-DNA adducts in vitro in comparison to the effects of thiosulphate and diethyldithiocarbamate

Marco Treskes, Leo G.J. Nijtmans, Anne Marie J. Fichtinger-Schepman, Wim J.F. van der Vijgh

Journal:

Biochemical Pharmacology

Year:

1992

Language:

english

File:

PDF, 791 KB

english, 1992

17

Superoxide production is inversely related to complex I activity in inherited complex I deficiency

Sjoerd Verkaart, Werner J.H. Koopman, Sjenet E. van Emst-de Vries, Leo G.J. Nijtmans, Lambertus W.P.J. van den Heuvel, Jan A.M. Smeitink, Peter H.G.M. Willems

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2007

Language:

english

File:

PDF, 370 KB

english, 2007

18

New mitochondrial tRNAHIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS)

Maria Antonietta Calvaruso, Michel A. Willemsen, Richard J. Rodenburg, Mariël van den Brand, Jan A.M. Smeitink, Leo Nijtmans

Journal:

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

19

Ribosome profiling reveals features of normal and disease-associated mitochondrial translation

Rooijers, Koos, Loayza-Puch, Fabricio, Nijtmans, Leo G., Agami, Reuven

Journal:

Nature Communications

Year:

2013

Language:

english

File:

PDF, 1.69 MB

english, 2013

20

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency

Murtada H. Farhoud, Leo G. Nijtmans, Ronald J. A. Wanders, Hans J. C. T. Wessels, Edwin Lasonder, Antoon J. M. Janssen, Richard R. J. Rodenburg, Lambert P. van den Heuvel, Jan A. M. Smeitink

Journal:

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

21

Human mitochondrial ATP-binding cassette transporter ABCB10 is required for efficient red blood cell development

Leilei Tang, Saskia M. Bergevoet, Greet Bakker-Verweij, Cornelis L. Harteveld, Piero C. Giordano, Leo Nijtmans, Theo de Witte, Joop H. Jansen, Reinier A. P. Raymakers, Bert A. van der Reijden

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 280 KB

english, 2012

22

Random Point Mutations with Major Effects on Protein-Coding Genes Are the Driving Force behind Premature Aging in mtDNA Mutator Mice

Daniel Edgar, Irina Shabalina, Yolanda Camara, Anna Wredenberg, Maria Antonietta Calvaruso, Leo Nijtmans, Jan Nedergaard, Barbara Cannon, Nils-Göran Larsson, Aleksandra Trifunovic

Journal:

Cell Metabolism

Year:

2009

Language:

english

File:

PDF, 875 KB

english, 2009

23

New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase

Cristina Ugalde, Marieke J.H Coenen, Murtada H Farhoud, Stefanie Gilinsky, Werner J.H Koopman, Lambert P van den Heuvel, Jan A.M Smeitink, Leo G.J Nijtmans

Journal:

Year:

2002

Language:

english

File:

PDF, 349 KB

english, 2002

24

Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

Pello, R., Martin, M. A., Carelli, V., Nijtmans, L. G., Achilli, A., Pala, M., Torroni, A., Gomez-Duran, A., Ruiz-Pesini, E., Martinuzzi, A., Smeitink, J. A., Arenas, J., Ugalde, C.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 582 KB

english, 2008

25

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant

Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A.M., Distelmaier, Felix, Janssen, Mirian C.H., Rodenburg, Richard J.T., Smeitink, Jan A.M., Nijtmans, Leo G.J.

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 1.15 MB

english, 2018

26

Solute diffusion is hindered in the mitochondrial matrix

Dieteren, C. E. J., Gielen, S. C. A. M., Nijtmans, L. G. J., Smeitink, J. A. M., Swarts, H. G., Brock, R., Willems, P. H. G. M., Koopman, W. J. H.

Journal:

Proceedings of the National Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 1.31 MB

english, 2011

27

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia

Manjeri, Ganesh R., Rodenburg, Richard J., Blanchet, Lionel, Roelofs, Suzanne, Nijtmans, Leo G., Smeitink, Jan A., Driessen, Jacques J., Koopman, Werner J. H., Willems, Peter H.

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 488 KB

english, 2016

28

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

Eva Morava, Richard J. Rodenburg, Frans Hol, Maaike de Vries, Antoon Janssen, Lambert van den Heuvel, Leo Nijtmans, Jan Smeitink

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

29

Nuclear gene defects in mitochondrial disorders

M. Zeviani, P. Corona, L. Nijtmans, V. Tiranti

Journal:

Neurological Sciences

Year:

1999

Language:

english

File:

PDF, 621 KB

english, 1999

30

Subunits of Mitochondrial Complex I Exist as Part of Matrix- and Membrane-associated Subcomplexes in Living Cells

Dieteren, C. E. J., Willems, P. H. G. M., Vogel, R. O., Swarts, H. G., Fransen, J., Roepman, R., Crienen, G., Smeitink, J. A. M., Nijtmans, L. G. J., Koopman, W. J. H.

Journal:

Journal of Biological Chemistry

Year:

2008

Language:

english

File:

PDF, 1.08 MB

english, 2008

31

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Kevelam, S. H., Rodenburg, R. J., Wolf, N. I., Ferreira, P., Lunsing, R. J., Nijtmans, L. G., Mitchell, A., Arroyo, H. A., Rating, D., Vanderver, A., van Berkel, C. G. M., Abbink, T. E. M., Heutink, P

Journal:

Year:

2013

Language:

english

File:

PDF, 622 KB

english, 2013

32

Complex I assembly: a puzzling problem

Vogel, Rutger, Nijtmans, Leo, Ugalde, Cristina, van den Heuvel, Lambert, Smeitink, Jan

Journal:

Current Opinion in Neurology

Year:

2004

Language:

english

File:

PDF, 129 KB

english, 2004

33

Corrigendum to âSuperoxide production is inversely related to complex I activity in inherited complex I deficiencyâ [Biochim Biophys Acta. 1772 (3) (2007) 373â381]

Verkaart, Sjoerd, Koopman, Werner J.H., van Emst-de Vries, Sjenet E., Nijtmans, Leo G.J., van den Heuvel, Lambertus W.P.J., Smeitink, Jan A.M., Willems, Peter H.G.M.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2020

File:

PDF, 1.38 MB

2020

34

The reversal of cisplatin-protein interactions by the modulating agent WR2721 and its metabolites WR1065 and WR33278

Marco Treskes, Ulbe Holwerda, Leo G. J. Nijtmans, Herbert M. Pinedo, Wim J. F. Vijgh

Journal:

Cancer Chemotherapy and Pharmacology

Year:

1992

Language:

english

File:

PDF, 480 KB

english, 1992

35

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 320 KB

english, 2010

36

Defective mitochondrial translation differently affects the live cell dynamics of complex I subunits

Cindy E.J. Dieteren, Peter H.G.M. Willems, Herman G. Swarts, Jack Fransen, Jan A.M. Smeitink, Werner J.H. Koopman, Leo G.J. Nijtmans

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2011

Language:

english

File:

PDF, 1.07 MB

english, 2011

37

Electrophoresis techniques to investigate defects in oxidative phosphorylation

Maria Antonietta Calvaruso, Jan Smeitink, Leo Nijtmans

Journal:

Year:

2008

Language:

english

File:

PDF, 520 KB

english, 2008

38

Encyclopedia of Life Sciences || Oxidative Phosphorylation System: Nuclear Genes and Genetic Disease

Year:

2001

Language:

english

File:

PDF, 258 KB

english, 2001

39

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene

Marieke J. H. Coenen, Lambert P. van den Heuvel, Cristina Ugalde, Marike ten Brinke, Leo G. J. Nijtmans, Frans J. M. Trijbels, Skadi Beblo, Esther M. Maier, Ania C. Muntau, Jan A. M. Smeitink

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 264 KB

english, 2004

40

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

Emma L. Blakely, Anna L. Mitchell, Nicholas Fisher, Brigitte Meunier, Leo G. Nijtmans, Andrew M. Schaefer, Margaret J. Jackson, Douglass M. Turnbull, Robert W. Taylor

Journal:

Year:

2005

Language:

english

File:

PDF, 338 KB

english, 2005

41

Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

Nouws, J., Nijtmans, L. G. J., Smeitink, J. A., Vogel, R. O.

Journal:

Year:

2012

Language:

english

File:

PDF, 507 KB

english, 2012

42

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome

Cristina Ugalde, Reetta Hinttala, Sharita Timal, Roel Smeets, Richard J.T. Rodenburg, Johanna Uusimaa, Lambert P. van Heuvel, Leo G.J. Nijtmans, Kari Majamaa, Jan A.M. Smeitink

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 275 KB

english, 2007

43

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

Szklarczyk, R., Wanschers, B. F. J., Nijtmans, L. G., Rodenburg, R. J., Zschocke, J., Dikow, N., van den Brand, M. A. M., Hendriks-Franssen, M. G. M., Gilissen, C., Veltman, J. A., Nooteboom, M., Koop

Journal:

Human Molecular Genetics

Year:

2013

Language:

english

File:

PDF, 394 KB

english, 2013

44

Impaired ATP Synthase Assembly Associated with a Mutation in the Human ATP Synthase Subunit 6 Gene

Nijtmans, L. G. J., Henderson, N. S., Attardi, G., Holt, I. J.

Journal:

Journal of Biological Chemistry

Year:

2001

Language:

english

File:

PDF, 850 KB

english, 2001

45

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

Baertling, Fabian, Sánchez-Caballero, Laura, van den Brand, Mariël A M, Wintjes, Liesbeth T, Brink, Maaike, van den Brandt, Frans A, Wilson, Callum, Rodenburg, Richard J T, Nijtmans, Leo G J

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 580 KB

english, 2017

46

Mitigation of NADH: Ubiquinone oxidoreductase deficiency by chronic Trolox treatment

Werner J.H. Koopman, Sjoerd Verkaart, Sjenet E. van Emst-de Vries, Sander Grefte, Jan A.M. Smeitink, Leo G.J. Nijtmans, Peter H.G.M. Willems

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2008

Language:

english

File:

PDF, 492 KB

english, 2008

47

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

Wanschers, B. F. J., Szklarczyk, R., Pajak, A., van den Brand, M. A. M., Gloerich, J., Rodenburg, R. J. T., Lightowlers, R. N., Nijtmans, L. G., Huynen, M. A.

Journal:

Nucleic Acids Research

Year:

2012

Language:

english

File:

PDF, 7.55 MB

english, 2012

48

Abnormal cardiolipin and phosphatidylglycerol remodeling in barth syndrome

Vreken, P, Valianpour, F, LA, Grivell, LG, Nijtmans, RJA, Wanders, PG, Barth

Journal:

Biochemical Society Transactions

Year:

2001

Language:

english

File:

PDF, 131 KB

english, 2001

49

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy

Leo G.J. Nijtmans, Peter G. Barth, Carsten R. Lincke, Mieke J.M. Van Galen, Rob Zwart, Petr Klement, Peeter A. Bolhuis, Wim Ruitenbeek, Ronald J.A. Wanders, Coby Van den Bogert

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1995

Language:

english

File:

PDF, 998 KB

english, 1995

50

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

Baertling, Fabian, Al-Murshedi, Fathiya, Sánchez-Caballero, Laura, Al-Senaidi, Khalfan, Joshi, Niranjan P, Venselaar, Hanka, van den Brand, Mariël AM, Nijtmans, Leo GJ, Rodenburg, Richard JT

Journal:

Year:

2017

Language:

english

File:

PDF, 1.29 MB

english, 2017

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