Publications

Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein.

Cacheux M., Blum A., Sébastien M., Wozny A.S., Brocard J., Mamchaoui K., Mouly V., Roux-Buisson N., Rendu J., Monnier N., Krivosic R., Allen P., Lacour A., Lunardi J., Fauré J., Marty I. 

J. Neuromuscular Diseases, (2015) 2: 421–432

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Triadin regulation of the ryanodine receptor complex

Marty I.

J Physiol. (2015) 593:3261-6.

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N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy

Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER.

EMBO Mol Med. (2014) 6:1455-75.

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Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy

Rendu J., Brocard J., Denarier E., Monnier N., Pietri-Rouxel F., Beley C., Roux-Buisson N., Gilbert-Dussardier B., Perez M.J., Romero N., Garcia L., Lunardi J., Fauré J., Fourest-Lieuvin A., and Marty I.

Hum Gene Ther. (2013) 24:702-13.

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The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

Dieterich K., Quijano-Roy S., Monnier N., Zhou J., Fauré J., Smirnow D.A., Carlier R., Laroche C., Marcorelles P., Mercier S., Megarbane A., Odent S., Romero N., Sternberg D., Marty I., Estournet B., Jouk P.S., Melki J., and Lunardi J. 

Hum Mol Genet. (2013) 22:1483-92.

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Roux-Buisson N., Cacheux M., Fourest-Lieuvin A., Fauconnier J., Brocard J., Denjoy I., Durand P., Guicheney P., Kyndt F., Leenhardt A., Le Marec H., Lucet V., Mabo P., Probst V., Monnier N., Ray P.F., Santoni E., Tremeaux P., Lacampagne A., Fauré J., Lunardi J., and Marty I. 

Hum Mol Genet. (2012) 21:2759-67.

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Role of triadin in the organization of reticulum membrane at the muscle triad

Fourest-Lieuvin A., Rendu J., Osseni A., Pernet-Gallay K., Rossi D., Oddoux S., Brocard J., Sorrentino V., Marty I., and Fauré J.

J Cell Sci. (2012) 125:3443-53.

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Triadin deletion induces impaired skeletal muscle function

Oddoux S., Brocard J., Schweitzer A., Szentesi P., Giannesini B., Brocard J., Fauré J., Pernet-Gallay K., Bendahan D.,Lunardi J., Csernoch L., and Marty I.

J Biol Chem. (2009) 284:34918-29.

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