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In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L, Petiot A, Brocard J, Giannesini B, Giovannini D, Sanchez C, Travard L, Chivet M, Beaufils M, Kutchukian C, Bendahan D, Metzger D, Franzini Armstrong C, Romero NB, Rendu J, Jacquemond V, Fauré J, Marty I. Pelletier L, et al. Among authors: faure j. Acta Neuropathol Commun. 2020 Nov 11;8(1):192. doi: 10.1186/s40478-020-01068-4. Acta Neuropathol Commun. 2020. PMID: 33176865 Free PMC article.
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Monnier N, et al. Among authors: faure j. Hum Mutat. 2008 May;29(5):670-8. doi: 10.1002/humu.20696. Hum Mutat. 2008. PMID: 18253926
[Ryanodine receptor type 1: redox state matters].
Lunardi J, Fauré J, Marty I, Monnier N. Lunardi J, et al. Among authors: faure j. Med Sci (Paris). 2008 Nov;24(11):897-9. doi: 10.1051/medsci/20082411897. Med Sci (Paris). 2008. PMID: 19038082 Free article. French. No abstract available.
Triadin: what possible function 20 years later?
Marty I, Fauré J, Fourest-Lieuvin A, Vassilopoulos S, Oddoux S, Brocard J. Marty I, et al. Among authors: faure j. J Physiol. 2009 Jul 1;587(Pt 13):3117-21. doi: 10.1113/jphysiol.2009.171892. Epub 2009 Apr 29. J Physiol. 2009. PMID: 19403623 Free PMC article. Review.
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, Marty I. Oddoux S, et al. Among authors: faure j. J Biol Chem. 2009 Dec 11;284(50):34918-29. doi: 10.1074/jbc.M109.022442. Epub 2009 Oct 19. J Biol Chem. 2009. PMID: 19843516 Free PMC article.
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 PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I. Roux-Buisson N, et al. Among authors: faure j. Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422768 Free PMC article.
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, Fauré J. Fourest-Lieuvin A, et al. Among authors: faure j. J Cell Sci. 2012 Jul 15;125(Pt 14):3443-53. doi: 10.1242/jcs.100958. Epub 2012 Apr 14. J Cell Sci. 2012. PMID: 22505613
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 DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J. Dieterich K, et al. Among authors: faure j. Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11. Hum Mol Genet. 2013. PMID: 23236030
1,289 results