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Article

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

The Journal of biological chemistry - 20 Feb 2004

Tronchère Hélène, Laporte Jocelyn, Pendaries Caroline, Chaussade Claire, Liaubet Laurence, Pirola Luciano, Mandel Jean-Louis, Payrastre Bernard

Abstract excerpt

MTM1, the gene encoding myotubularin (MTM1), is mutated in the X-linked myotubular myopathy (XLMTM), a severe genetic muscular disorder. MTM1 is a phosphoinositide phosphatase hydrolyzing phosphatidylinositol 3-phosphate (PtdIns(3)P) in yeast and in vitro. Because this lipid is implicated in the regulation of vesicular trafficking, we used established cell lines from XLMTM patients to evaluate whether the lack of...

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Identifiers

PMID: 14660569
DOI: 10.1074/jbc.M311071200

Genes

MTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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