ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy-Reference-Cited by-同舟云学术

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy

Published:2017-02-02 Issue:4 Volume:38 Page:426-438
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Böhm Johann¹²³⁴⁵,Bulla Monica⁶,Urquhart Jill E.⁷⁸,Malfatti Edoardo⁹¹⁰,Williams Simon G.⁷,O'Sullivan James⁷⁸,Szlauer Anastazja⁶,Koch Catherine¹²³⁴⁵,Baranello Giovanni¹¹,Mora Marina¹²,Ripolone Michela¹³,Violano Raffaella¹³,Moggio Maurizio¹³,Kingston Helen⁷,Dawson Timothy¹⁴,DeGoede Christian G.¹⁵,Nixon John¹⁶,Boland Anne¹⁷,Deleuze Jean-François¹⁷,Romero Norma⁹¹⁰,Newman William G.⁷⁸,Demaurex Nicolas⁶,Laporte Jocelyn¹²³⁴⁵

Affiliation:

1. Departement of Translational Medicine and Neurogenetics; IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire); Illkirch France

2. Inserm; U964 Illkirch France

3. CNRS; UMR7104 Illkirch France

4. Fédération de Médecine Translationnelle; University of Strasbourg; Illkirch France

5. Collège de France; Chaire de Génétique Humaine; Illkirch France

6. Department of Cell Physiology and Metabolism; University of Geneva; Geneva Switzerland

7. Manchester Centre for Genomic Medicine; St. Mary's Hospital; Manchester UK

8. Manchester Centre for Genomic Medicine; University of Manchester; Manchester UK

9. Centre de Référence de Pathologie Neuromusculaire Paris-Est; Groupe Hospitalier Pitié-Salpêtrière; Paris France

10. Institut de Myologie; GHU La Pitie-Salpetriere; Paris France

11. Developmental Neurology Unit; Fondazione IRCCS Istituto Neurologico C. Besta; Milano Italy

12. Neuromuscular Diseases and Neuroimmunology Unit; Fondazione IRCCS Istituto Neurologico C. Besta; Milano Italy

13. Neuromuscular and Rare Diseases Unit; Department of Neuroscience; Fondazione IRCCS Ca' Granda; Ospedale Maggiore Policlinico; Milan Italy

14. Department of Pathology; Royal Preston Hospital; Preston UK

15. Department of Paediatric Neurology; Royal Preston Hospital; Preston UK

16. Department of Neurology; Royal Preston Hospital; Preston UK

17. Centre National de Génotypage; Institut de Génomique; CEA; Evry France

Funder

Institut National de la Santé et de la Recherche Médicale

Centre National de la Recherche Scientifique

Université de Strasbourg

Collège de France

Agence Nationale de la Recherche

Fondation Maladies Rares

Association Française contre les Myopathies

Muscular Dystrophy Association

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1;Bohm;J Med Genet,2014

2. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy;Bohm;Am J Hum Genet,2013

3. Sequential stages in the age-dependent gradual formation and accumulation of tubular aggregates in fast twitch muscle fibers: SERCA and calsequestrin involvement;Boncompagni;Age (Dordr),2012

4. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma;Byun;J Exp Med,2010

5. The Orai1 Store-operated Calcium Channel Functions as a Hexamer;Cai;J Biol Chem,2016

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