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

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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Bibliographic Details
Main Authors: Manuela Bozzi, Alberto Cassetta, Sonia Covaceuszach, Maria Giulia Bigotti, Saskia Bannister, Wolfgang Hübner, Francesca Sciandra, Doriano Lamba, Andrea Brancaccio
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4416926?pdf=render

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http://europepmc.org/articles/PMC4416926?pdf=render

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