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myotubularin


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'myotubularin' can also refer to...

myotubularin

myotubularin

myotubularin 1 (MTM1)

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

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

Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15

 

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One of a family of putative tyrosine phosphatases required for muscle cell differentiation. Myotubularin 1 (621 aa) is only one of eight myotublarin gene products. Mutations in myotubularin 1 lead to X-linked myotubular myopathy-1; a close homologue, myotubularin 2 is mutated in a recessive form of Charcot–Marie–Tooth neuropathy.

Subjects: Chemistry — Medicine and Health.


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