CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy-Reference-Cited by-同舟云学术

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy

Published:2017-10-16 Issue:1 Volume:135 Page:149-151
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Böhm Johann,Lornage Xavière,Chevessier Frederic,Birck Catherine,Zanotti Simona,Cudia Paola,Bulla Monica,Granger Florence,Bui Mai Thao,Sartori Maxime,Schneider-Gold Christiane,Malfatti Edoardo,Romero Norma B.,Mora Marina,Laporte Jocelyn^ORCID

Funder

Agence Nationale de la Recherche

Association Française contre les Myopathies

Muscular Dystrophy Association

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Fondazione Telethon

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Pathology and Forensic Medicine

Link

http://link.springer.com/article/10.1007/s00401-017-1775-x/fulltext.html

Reference9 articles.

1. Bohm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O’Sullivan J, Szlauer A, Koch C, Baranello G, Mora M et al (2017) ORAI1 mutations with distinct channel gating defects in tubular aggregate myopathy. Hum Mutat. doi: 10.1002/humu.23172

2. Bohm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantai D, Laforet P, Ghorab K, Vallat JM et al (2013) Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet 92:271–278. doi: 10.1016/j.ajhg.2012.12.007S0002-9297(12)00641-6

3. Chevessier F, Bauche-Godard S, Leroy JP, Koenig J, Paturneau-Jouas M, Eymard B, Hantai D, Verdiere-Sahuque M (2005) The origin of tubular aggregates in human myopathies. J Pathol 207:313–323. doi: 10.1002/path.1832

4. Damiani E, Salvatori S, Margreth A (1990) Characterization of calsequestrin of avian skeletal muscle. J Muscle Res Cell Motil 11:48–55

5. Lewis KM, Ronish LA, Rios E, Kang C (2015) Characterization of two human skeletal calsequestrin mutants implicated in malignant hyperthermia and vacuolar aggregate myopathy. J Biol Chem 290:28665–28674. doi: 10.1074/jbc.M115.686261

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