Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells-Reference-Cited by-同舟云学术

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

Published:2019-07-18 Issue:1 Volume:5 Page:
ISSN:2058-7716
Container-title:Cell Death Discovery
language:en
Short-container-title:Cell Death Discov.

Author:

Chandra Goutam,Defour Aurelia,Mamchoui Kamel,Pandey Kalpana^ORCID,Mishra Soumya,Mouly Vincent,Sreetama SenChandra,Mahad Ahmad Mohammad,Mahjneh Ibrahim,Morizono Hiroki^ORCID,Pattabiraman Nagarajan,Menon Anant K.^ORCID,Jaiswal Jyoti K.^ORCID

Funder

U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases

U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Cell Biology,Cellular and Molecular Neuroscience,Immunology

Link

http://www.nature.com/articles/s41420-019-0197-z.pdf

Reference56 articles.

1. Hicks, D. et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. Brain: J. Neurol. 134, 171–182 (2011).

2. Sarkozy, A. et al. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Hum. Mutat. 34, 1111–1118 (2013).

3. Witting, N. et al. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. J. Neurol. 260, 2084–2093 (2013).

4. Bolduc, V. et al. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am. J. Hum. Genet. 86, 213–221 (2010).

5. Katoh, M. & Katoh, M. GDD1 is identical to TMEM16E, a member of the TMEM16 family. Am. J. Hum. Genet. 75, 927–928 (2004).

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