Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype-Reference-Cited by-同舟云学术

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype

Published:2011-11-07 Issue:4 Volume:21 Page:811-825
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Pierson Christopher R.,Dulin-Smith Ashley N.,Durban Ashley N.,Marshall Morgan L.,Marshall Jordan T.,Snyder Andrew D.,Naiyer Nada,Gladman Jordan T.,Chandler Dawn S.,Lawlor Michael W.,Buj-Bello Anna,Dowling James J.,Beggs Alan H.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference38 articles.

1. Centronuclear (myotubular) myopathy;Orphanet. J. Rare Dis.,2008

2. X-linked myotubular and centronuclear myopathies;J. Neuropathol. Exp. Neurol.,2005

3. Centronuclear myopathies: a widening concept;Neuromuscul. Disord.,2010

4. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast;Nat. Genet.,1996

5. The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice;Proc. Natl Acad. Sci. USA,2002

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inactivating the lipid kinase activity of PI3KC2β is sufficient to rescue myotubular myopathy in mice;JCI Insight;2023-05-08

2. Correlated evolution of social organization and lifespan in mammals;Nature Communications;2023-01-31

3. Endosomal lipid signaling reshapes the endoplasmic reticulum to control mitochondrial function;Science;2022-12-16

4. Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model;JCI Insight;2022-08-08

5. Expression patterns and the roles of phosphatidylinositol phosphatases in testis;Biology of Reproduction;2022-06-29