Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome (Q27642841)

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Gregory S Taylor

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Soo-A Kim

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Donna M Veine

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Jeanne A Stuckey

Methods used in the structure determination of bovine mitochondrial F1 ATPase

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publication date

December 2003

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published in

Molecular Cell

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volume

12

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page(s)

1391-402

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issue

6

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cites work

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Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23.

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

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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

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The PH superfold: a structural scaffold for multiple functions

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

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Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing

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Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

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Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

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The crystal structure of the PX domain from p40(phox) bound to phosphatidylinositol 3-phosphate

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Association of SET domain and myotubularin-related proteins modulates growth control

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GRAM, a novel domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins

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

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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

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The myotubularin family: from genetic disease to phosphoinositide metabolism

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Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association

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Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

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Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

3647366

3647366

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Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

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