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Defective autophagy and increased apoptosis contribute toward the pathogenesis of FKRP-associated muscular dystrophies

Fukutin-related protein (FKRP) is a glycosyltransferase involved in glycosylation of alpha-dystroglycan (α-DG). Mutations in FKRP are associated with muscular dystrophies (MD) ranging from limb-girdle LGMDR9 to Walker-Warburg Syndrome (WWS), a severe type of congenital MD. Although hypoglycosylation...

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Detalles Bibliográficos
Autores principales: Ortiz-Cordero, Carolina, Bincoletto, Claudia, Dhoke, Neha R., Selvaraj, Sridhar, Magli, Alessandro, Zhou, Haowen, Kim, Do-Hyung, Bang, Anne G., Perlingeiro, Rita C.R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581053/
https://www.ncbi.nlm.nih.gov/pubmed/34653404
http://dx.doi.org/10.1016/j.stemcr.2021.09.009