RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy-Reference-Cited by-同舟云学术

RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy

Published:2021-10-22 Issue:6 Volume:12 Page:2079-2090
ISSN:2190-5991
Container-title:Journal of Cachexia, Sarcopenia and Muscle
language:en
Short-container-title:J cachexia sarcopenia muscle

Author:

Mariot Virginie¹^ORCID,Joubert Romain¹²^ORCID,Le Gall Laura¹^ORCID,Sidlauskaite Eva¹,Hourde Christophe³^ORCID,Duddy William⁴^ORCID,Voit Thomas¹,Bencze Maximilien⁵⁶^ORCID,Dumonceaux Julie¹⁴^ORCID

Affiliation:

1. NIHR Biomedical Research Centre University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust London UK

2. United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience King's College London London UK

3. Laboratoire Interuniversitaire de Biologie de la Motricité Université Savoie Mont Blanc Chambéry France

4. Northern Ireland Center for Stratified/Personalised Medicine, Biomedical Sciences Research Institute Ulster University Derry~Londonderry Northern Ireland UK

5. University Paris Est Créteil, INSERM, IMRB Créteil France

6. The Dubowitz Neuromuscular Centre, Molecular Neurosciences Section, Developmental Neurosciences Programme UCL Great Ormond Street Institute of Child Health London UK

Funder

FSH Society

Publisher

Wiley

Subject

Physiology (medical),Orthopedics and Sports Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcsm.12813

Reference41 articles.

1. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

2. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

3. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2