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1

FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy

Ziat, Esma, Mamchaoui, Kamel, Beuvin, Maud, Nelson, Isabelle, Azibani, Feriel, Spuler, Simone, Bonne, Gisèle, Bertrand, Anne T.

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 2.11 MB

english, 2016

2

Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells

Gimpel, Petra, Lee, Yin Loon, Sobota, Radoslaw M., Calvi, Alessandra, Koullourou, Victoria, Patel, Rutti, Mamchaoui, Kamel, Nédélec, François, Shackleton, Sue, Schmoranzer, Jan, Burke, Brian, Cadot, B

Journal:

Current Biology

Year:

2017

Language:

english

File:

PDF, 6.60 MB

english, 2017

3

Glucose transporter gene expression in freshly isolated and cultured rat pneumocytes

K. MAMCHAOUI, Y. MAKHLOUFI, G. SAUMON

Journal:

Acta Physiologica

Year:

2002

Language:

english

File:

PDF, 222 KB

english, 2002

4

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

Kamel Mamchaoui, Capucine Trollet, Anne Bigot, Elisa Negroni, Soraya Chaouch, Annie Wolff, Prashanth K Kandalla, Solenne Marie, James Di Santo, Jean Lacau St Guily, Francesco Muntoni, Jihee Kim, Susan

Journal:

Skeletal Muscle

Year:

2011

Language:

english

File:

PDF, 759 KB

english, 2011

5

The mitotic clock in skeletal muscle regeneration, disease and cell mediated gene therapy

V. Mouly, A. Aamiri, A. Bigot, R. N. Cooper, S. Di Donna, D. Furling, T. Gidaro, V. Jacquemin, K. Mamchaoui, E. Negroni, S. Périé, V. Renault, S. D. Silva-Barbosa, G. S. Butler-Browne

Journal:

Acta Physiologica

Year:

2005

Language:

english

File:

PDF, 422 KB

english, 2005

6

Cellular senescence in human myoblasts is overcome by human telomerase reverse transcriptase and cyclin-dependent kinase 4: consequences in aging muscle and therapeutic strategies for muscular dystrophies

Chun-Hong Zhu, Vincent Mouly, Racquel N. Cooper, Kamel Mamchaoui, Anne Bigot, Jerry W. Shay, James P. Di Santo, Gillian S. Butler-Browne, Woodring E. Wright

Journal:

Year:

2007

Language:

english

File:

PDF, 252 KB

english, 2007

7

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 988 KB

english, 2011

8

T.P.2 02 The mitotic clock in skeletal muscle: Immortalization of human myoblasts and consequences for studying muscle disease

G.S. Butler-Browne, K. Mamchaoui, R.N. Cooper, W.E. Wright, V. Mouly

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

9

G.P.9 04 Premature senescence of myoblasts in oculopharyngeal muscular dystrophy

B. Bouazza, S. Perié, K. Mamchaoui, V. Mouly, J. Lacau St-Guily, G. Butler Browne

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

10

Premature proliferative arrest of cricopharyngeal myoblasts in oculo-pharyngeal muscular dystrophy: Therapeutic perspectives of autologous myoblast transplantation

Sophie Périé, Kamel Mamchaoui, Vincent Mouly, Stéphane Blot, Belaïd Bouazza, Lars-Eric Thornell, Jean Lacau St Guily, Gillian Butler-Browne

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 2.23 MB

english, 2006

11

Impact on oxidative phosphorylation of immortalization with the telomerase gene

K. Auré, K. Mamchaoui, P. Frachon, G.S. Butler-Browne, A. Lombès, V. Mouly

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 311 KB

english, 2007

12

G.P.7.14 Protocol of autologous myoblast transplantation in the pharyngeal muscles to correct dysphagia in patients with oculopharyngeal muscular dystrophy

G. Butler-Browne, S. Périé, B. Bouazza, F. Svinartchouk, K. Mamchaoui, J. Marolleau, B. Eymard, V. Mouly, J. Lacau St. Guily

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

13

G.P.16.01 Human cellular models for muscular disorders as tools to study pathophysiology and to develop therapeutic approaches

K. Mamchaoui, A. Bigot, M. Jacquemin, K. Flanigan, W. Wright, G. Butler-Browne, V. Mouly

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

14

T.P.1.09 Oculopharyngeal muscular dystrophy (OPMD): Physiopathological mechanisms and gene therapy approaches

C. Trollet, O. Bales, Y. Anvar, K. Foster, K. Mamchaoui, P.A. ’t Hoen, V. Raz, S. van der Maarel, M. Antoniou, V. Mouly, G. Butler-Browne, G. Dickson

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

15

P2.45 Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy muscles

T. Gidaro, K. Mamchaoui, B. Bouazza, S. Perié, F. Svinartchouk, S. Blumen, J.J.S. Guily, G. Butler-Browne, V. Mouly, C. Trollet

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

16

O.12 Studies in antisense oligonucleotide induced exon skipping of single or double exon duplications

L. Taylor, L. Zhao, Y. Kaminoh, K. Mamchaoui, V. Mouly, G. Butler-Browne, A. Vulin, S. Wilton, K.M. Flanigan

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

17

D.P.25 Mutation in lamin A/C gene causes mechanotransduction defects in human myoblasts

Bertrand, A., Ehret, C., Mamchaoui, K., Ziaei, S., Mayer, M., Desguerre, I., Bonne, G., Coirault, C.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

18

Shift from Extracellular Signal-Regulated Kinase to AKT/cAMP Response Element-Binding Protein Pathway Increases Survival-Motor-Neuron Expression in Spinal-Muscular-Atrophy-Like Mice and Patient Cells

Branchu, J., Biondi, O., Chali, F., Collin, T., Leroy, F., Mamchaoui, K., Makoukji, J., Pariset, C., Lopes, P., Massaad, C., Chanoine, C., Charbonnier, F.

Journal:

Journal of Neuroscience

Year:

2013

Language:

english

File:

PDF, 3.69 MB

english, 2013

19

Gene Correction of a Duchenne Muscular Dystrophy Mutation by Meganuclease-Enhanced Exon Knock-In

Popplewell, Linda, Koo, Taeyoung, Leclerc, Xavier, Duclert, Aymeric, Mamchaoui, Kamel, Gouble, Agnés, Mouly, Vincent, Voit, Thomas, Pâques, Frédéric, Cédrone, Frédéric, Isman, Olga, Yáñez-Muñoz, Rafae

Journal:

Human Gene Therapy

Year:

2013

Language:

english

File:

PDF, 629 KB

english, 2013

20

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Zhou, Haiyan, Rokach, Ori, Feng, Lucy, Munteanu, Iulia, Mamchaoui, Kamel, Wilmshurst, Jo M., Sewry, Caroline, Manzur, Adnan Y., Pillay, Komala, Mouly, Vincent, Duchen, Michael, Jungbluth, Heinz, Treve

Journal:

Year:

2013

Language:

english

File:

PDF, 715 KB

english, 2013

21

Myeloid related protein induces muscle derived inflammatory mediators in juvenile dermatomyositis

Nistala, Kiran, Varsani, Hemlata, Wittkowski, Helmut, Vogl, Thomas, Krol, Petra, Shah, Vanita, Mamchaoui, Kamel, Brogan, Paul A, Roth, Johannes, Wedderburn, Lucy R

Journal:

Arthritis Research & Therapy

Year:

2013

Language:

english

File:

PDF, 1.20 MB

english, 2013

22

Mutations in Lamin A/C Gene Causes Mechanosensing Defects in Human Myoblasts

Bertrand, Anne, Ehret, Camille, Mamchaoui, Kamel, Ziaei, Simindokht, Lainé, Jeanne, Mayer, Michèle, Desguerre, Isabelle, Bonne, Gisèle, Coirault, Catherine

Journal:

Biophysical Journal

Year:

2013

Language:

english

File:

PDF, 37 KB

english, 2013

23

P.16.12 OPMD from the myoblast’s and fibroblast’s point of view

Gidaro, T., Negroni, E., Klein, P., Oloko, M., Lesnik, M., Bigot, A., Mamchaoui, K., Périé, S., Guily, J.L. St, Butler-Browne, G., Mouly, V., Trollet, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

24

O01 Autologous cell therapy in oculopharyngeal muscular dystrophy (OPMD)

Périé, S., Trollet, C., Mouly, V., Larghero, J., Mamchaoui, K., Bouazza, B., Toy-Miou, M., Marolleau, J.P., Eymard, B., Laforêt, P., Chapon, F., Butler-Browne, G., Guily, J. Lacau St

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

25

Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient

Krom, Yvonne D., Dumonceaux, Julie, Mamchaoui, Kamel, den Hamer, Bianca, Mariot, Virginie, Negroni, Elisa, Geng, Linda N., Martin, Nicolas, Tawil, Rabi, Tapscott, Stephen J., van Engelen, Baziel G.M.,

Journal:

The American Journal of Pathology

Year:

2012

Language:

english

File:

PDF, 1.43 MB

english, 2012

26

G.P.93

Maniangou, B., Cadot, B., Dorna, M., Holtzman, I., Pontoriero, M., Jollet, A., Mamchaoui, K., Lorain, S., Voit, T., Pietri-Rouxel, F., Benkhelifa-Ziyyat, S.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

27

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Bertrand, A. T., Ziaei, S., Ehret, C., Duchemin, H., Mamchaoui, K., Bigot, A., Mayer, M., Quijano-Roy, S., Desguerre, I., Laine, J., Ben Yaou, R., Bonne, G., Coirault, C.

Journal:

Journal of Cell Science

Year:

2014

Language:

english

File:

PDF, 7.27 MB

english, 2014

28

Unveiling the degradative route of the V247M -sarcoglycan mutant responsible for LGMD-2D

Bianchini, E., Fanin, M., Mamchaoui, K., Betto, R., Sandona, D.

Journal:

Human Molecular Genetics

Year:

2014

Language:

english

File:

PDF, 763 KB

english, 2014

29

Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches

Lorain, S., Peccate, C., Le Hir, M., Griffith, G., Philippi, S., Precigout, G., Mamchaoui, K., Jollet, A., Voit, T., Garcia, L.

Journal:

Nucleic Acids Research

Year:

2013

Language:

english

File:

PDF, 7.56 MB

english, 2013

30

FUBP1: a new protagonist in splicing regulation of the DMD gene

Miro, J., Laaref, A. M., Rofidal, V., Lagrafeuille, R., Hem, S., Thorel, D., Mechin, D., Mamchaoui, K., Mouly, V., Claustres, M., Tuffery-Giraud, S.

Journal:

Nucleic Acids Research

Year:

2015

Language:

english

File:

PDF, 2.20 MB

english, 2015

31

Inhibition of Chikungunya Virus Infection in Cultured Human Muscle Cells by Furin Inhibitors

Ozden, Simona, Lucas-Hourani, Marianne, Ceccaldi, Pierre-Emmanuel, Basak, Ajoy, Valentine, Menogh, Benjannet, Suzanne, Hamelin, Josée, Jacob, Yves, Mamchaoui, Kamel, Mouly, Vincent, Desprès, Philippe,

Journal:

Journal of Biological Chemistry

Year:

2008

Language:

english

File:

PDF, 1006 KB

english, 2008

32

Synthetically modified mRNA for efficient and fast human iPS cell generation and direct transdifferentiation to myoblasts

Preskey, David, Allison, Thomas F., Jones, Mark, Mamchaoui, Kamel, Unger, Christian

Journal:

Biochemical and Biophysical Research Communications

Year:

2015

Language:

english

File:

PDF, 2.24 MB

english, 2015

33

Autologous Myoblast Transplantation for Oculopharyngeal Muscular Dystrophy: a Phase I/Iia Clinical Study

Périé, Sophie, Trollet, Capucine, Mouly, Vincent, Vanneaux, Valérie, Mamchaoui, Kamel, Bouazza, Belaïd, Marolleau, Jean Pierre, Laforêt, Pascal, Chapon, Françoise, Eymard, Bruno, Butler-Browne, Gillia

Journal:

Molecular Therapy

Year:

2014

Language:

english

File:

PDF, 416 KB

english, 2014

34

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Munt

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

35

ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1 : potential implication in Facioscapulohumeral dystrophy

Kim, Elena, Rich, Jeremy, Karoutas, Adam, Tarlykov, Pavel, Cochet, Emilie, Malysheva, Daria, Mamchaoui, Kamel, Ogryzko, Vasily, Pirozhkova, Iryna

Journal:

Nucleic Acids Research

Year:

2015

Language:

english

File:

PDF, 3.79 MB

english, 2015

36

Immortalized Skin Fibroblasts Expressing Conditional MyoD as a Renewable and Reliable Source of Converted Human Muscle Cells to Assess Therapeutic Strategies for Muscular Dystrophies: Validation of an Exon-Skipping Approach to Restore Dystrophin in Duchenne Muscular Dystrophy Cells

Chaouch, Soraya, Mouly, Vincent, Goyenvalle, Aurélie, Vulin, Adeline, Mamchaoui, Kamel, Negroni, Elisa, Di Santo, James, Butler-Browne, Gillian, Torrente, Yvan, Garcia, Luis, Furling, Denis

Journal:

Human Gene Therapy

Year:

2009

Language:

english

File:

PDF, 71.08 MB

english, 2009

37

Mechanosensing Defects in Nuclear Envelope Related Disorders

Technau, Christine, Fischer, Martina, Mamchaoui, Kamel, Bigot, Anne, Lok, Thevy, Verdier, Claude, Duperray, Alain, Voit, Thomas, Quijano-Roy, Susana, Bonne, Gisèle, Coirault, Catherine

Journal:

Biophysical Journal

Year:

2016

Language:

english

File:

PDF, 41 KB

english, 2016

38

Membrane repair of human skeletal muscle cells requires Annexin-A5

Carmeille, Romain, Bouvet, Flora, Tan, Sisareuth, Croissant, Coralie, Gounou, Céline, Mamchaoui, Kamel, Mouly, Vincent, Brisson, Alain R., Bouter, Anthony

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

Year:

2016

Language:

english

File:

PDF, 2.98 MB

english, 2016

39

Laminopathies disrupt epigenomic developmental programs and cell fate

Perovanovic, J., DellOrso, S., Gnochi, V. F., Jaiswal, J. K., Sartorelli, V., Vigouroux, C., Mamchaoui, K., Mouly, V., Bonne, G., Hoffman, E. P.

Journal:

Science Translational Medicine

Year:

2016

Language:

english

File:

PDF, 1.60 MB

english, 2016

40

Convergence of monotone operators with respect to measures

Mamchaoui, Mohamed, Senouci Bereksi, Ghouti

Journal:

ZAMM - Journal of Applied Mathematics and Mechanics / Zeitschrift für Angewandte Mathematik und Mechanik

Year:

2016

Language:

english

File:

PDF, 338 KB

english, 2016

41

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

Arandel, Ludovic, Polay Espinoza, Micaela, Matloka, Magdalena, Bazinet, Audrey, De Dea Diniz, Damily, Naouar, Naïra, Rau, Frédérique, Jollet, Arnaud, Edom-Vovard, Frédérique, Mamchaoui, Kamel, Tarnopo

Journal:

Disease Models & Mechanisms

Year:

2017

Language:

english

File:

PDF, 2.05 MB

english, 2017

42

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Pa

Journal:

Journal of Neuromuscular Diseases

Year:

2015

Language:

english

File:

PDF, 640 KB

english, 2015

43

Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System

Lattanzi, Annalisa, Duguez, Stephanie, Moiani, Arianna, Izmiryan, Araksya, Barbon, Elena, Martin, Samia, Mamchaoui, Kamel, Mouly, Vincent, Bernardi, Francesco, Mavilio, Fulvio, Bovolenta, Matteo

Journal:

Molecular Therapy — Nucleic Acids

Year:

2017

Language:

english

File:

PDF, 1.68 MB

english, 2017

44

PABPN1 gene therapy for oculopharyngeal muscular dystrophy

Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S. A., Cordova, G., Ferry, A., Strings, V., Espinoza, M. Polay, Mamchaoui, K., Blumen, S. C., St Guily, J. Lacau, Mouly, V., Graham, M., Butler-Browne, G

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 2.18 MB

english, 2017

45

Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines

Thorley, Matthew, Duguez, Stéphanie, Mazza, Emilia Maria Cristina, Valsoni, Sara, Bigot, Anne, Mamchaoui, Kamel, Harmon, Brennan, Voit, Thomas, Mouly, Vincent, Duddy, William

Journal:

Skeletal Muscle

Year:

2015

Language:

english

File:

PDF, 3.66 MB

english, 2015

46

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1

Schwartz, Christine, Fischer, Martina, Mamchaoui, Kamel, Bigot, Anne, Lok, Thevy, Verdier, Claude, Duperray, Alain, Michel, Richard, Holt, Ian, Voit, Thomas, Quijano-Roy, Suzanna, Bonne, Gisèle, Coira

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 4.57 MB

english, 2017

47

Nesprin-1 recruits Akap450-mediated microtubule nucleation activity to the nuclear envelope to facilitate proper nuclear migration in skeletal muscle

Lee, Yin Loon, Gimpel, Petra, Sobota, Radoslaw, Calvi, Alessandra, Koullourou, Victoria, Patel, Rutti, Mamchaoui, Kamel, Nédélec, François, Shackleton, Sue, Schmoranzer, Jan, Burke, Brian, Cadot, Brun

Journal:

Mechanisms of Development

Year:

2017

Language:

english

File:

PDF, 47 KB

english, 2017

48

Quantitative antisense screening and optimization for exon 51 skipping in Duchenne muscular dystrophy

Echigoya, Yusuke, Lim, Kenji Rowel Q., Trieu, Nhu, Bao, Bo, Miskew, Bailey, Vila, Maria Candida, Novak, James S., Hara, Yuko, Lee, Joshua, Touznik, Aleksander, Mamchaoui, Kamel, Aoki, Yoshitsugu, Take

Journal:

Molecular Therapy

Year:

2017

Language:

english

File:

PDF, 3.58 MB

english, 2017

49

Obestatin Increases the Regenerative Capacity of Human Myoblasts Transplanted Intramuscularly in an Immunodeficient Mouse Model

Santos-Zas, Icia, Negroni, Elisa, Mamchaoui, Kamel, Mosteiro, Carlos S., Gallego, Rosalia, Butler-Browne, Gillian S., Pazos, Yolanda, Mouly, Vincent, Camiña, Jesus P.

Journal:

Molecular Therapy

Year:

2017

Language:

english

File:

PDF, 4.02 MB

english, 2017

50

Gene therapy for oculopharyngeal muscular dystrophy

Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S., Cordova, G., Ferry, A., Strings, V., Espinoza, M. Polay, Mamchaoui, K., Blumen, S., Guily, J. Lacau St, Mouly, V., Graham, M., Butler-Browne, G., Suh

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 256 KB

english, 2017

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