Fukutin-Related Protein Resides in the Golgi Cisternae of Skeletal Muscle Fibres and Forms Disulfide-Linked Homodimers via an N-Terminal Interaction

Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3). Mutations in FKRP are also associated with Congenital Muscular Dystrophy (MDC1C), Walker-Warburg S...

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Detalles Bibliográficos
Autores principales: Alhamidi, Maisoon, Kjeldsen Buvang, Elisabeth, Fagerheim, Toril, Brox, Vigdis, Lindal, Sigurd, Van Ghelue, Marijke, Nilssen, Øivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160285/
https://www.ncbi.nlm.nih.gov/pubmed/21886772
http://dx.doi.org/10.1371/journal.pone.0022968

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160285/
https://www.ncbi.nlm.nih.gov/pubmed/21886772
http://dx.doi.org/10.1371/journal.pone.0022968

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