Varaico: Literature-Extracted Genetic Variants

Gene:MTM1
Variant:p.D278A
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MTM1

NM_000252.3:p.D278A

Associated Papers

The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.

Royer B et al.

Embo Reports, 2013

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

Hnia K et al.

The Journal of Clinical Investigation, 2011

118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).

Bertini E et al.

Neuromuscular Disorders : Nmd, 2004

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.

Tronchère H et al.

The Journal of Biological Chemistry, 2004

Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport.

Chaussade C et al.

Molecular Endocrinology (baltimore, Md.), 2003

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.

Begley MJ et al.

Molecular Cell, 2003

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin.

Tronchère H et al.

Cellular and Molecular Life Sciences : Cmls, 2003

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

Laporte J et al.

Journal of Cell Science, 2002

The myotubularin family: novel phosphoinositide regulators.

Nandurkar HH et al.

Iubmb Life, 2002

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Blondeau F et al.

Human Molecular Genetics, 2000

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