The Structure of the T190M Mutant of Murine α-Dystroglycan at High Resolution: Insight into the Molecular Basis of a Primary Dystroglycanopathy

The severe dystroglycanopathy known as a form of limb-girdle muscular dystrophy (LGMD2P) is an autosomal recessive disease caused by the point mutation T192M in α-dystroglycan. Functional expression analysis in vitro and in vivo indicated that the mutation was responsible for a decrease in posttrans...

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Detalles Bibliográficos
Autores principales: Bozzi, Manuela, Cassetta, Alberto, Covaceuszach, Sonia, Bigotti, Maria Giulia, Bannister, Saskia, Hübner, Wolfgang, Sciandra, Francesca, Lamba, Doriano, Brancaccio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416926/
https://www.ncbi.nlm.nih.gov/pubmed/25932631
http://dx.doi.org/10.1371/journal.pone.0124277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416926/
https://www.ncbi.nlm.nih.gov/pubmed/25932631
http://dx.doi.org/10.1371/journal.pone.0124277

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