Upregulation of Hallmark Muscle Genes Protects Gne(M743T/M743T) Mutated Knock-In Mice From Kidney and Muscle Phenotype

BACKGROUND: Mutations in GNE cause a recessive, adult onset myopathy characterized by slowly progressive distal and proximal muscle weakness. Knock-in mice carrying the most frequent mutation in GNE myopathy patients, Gne(M743T/M743T), usually die few days after birth from severe renal failure, with...

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Detalhes bibliográficos
Publicado no:J Neuromuscul Dis
Main Authors: Benyamini, Hadar, Kling, Yehuda, Yakovlev, Lena, Becker Cohen, Michal, Nevo, Yuval, Elgavish, Sharona, Harazi, Avi, Argov, Zohar, Sela, Ilan, Mitrani-Rosenbaum, Stella
Formato: Artigo
Idioma:Inglês
Publicado em: IOS Press 2020
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7175939/
https://ncbi.nlm.nih.gov/pubmed/31985472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-190461
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