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

Autosomal recessive mutations in Anoctamin 5 (ANO5/TMEM16E), a member of the transmembrane 16 (TMEM16) family of Ca(2+)-activated ion channels and phospholipid scramblases, cause adult-onset muscular dystrophies (limb girdle muscular dystrophy 2L (LGMD2L) and Miyoshi Muscular Dystrophy (MMD3). Howev...

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Detalles Bibliográficos
Autores principales: Chandra, Goutam, Defour, Aurelia, Mamchoui, Kamel, Pandey, Kalpana, Mishra, Soumya, Mouly, Vincent, Sreetama, SenChandra, Mahad Ahmad, Mohammad, Mahjneh, Ibrahim, Morizono, Hiroki, Pattabiraman, Nagarajan, Menon, Anant K., Jaiswal, Jyoti K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639303/
https://www.ncbi.nlm.nih.gov/pubmed/31341644
http://dx.doi.org/10.1038/s41420-019-0197-z