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Cellular and Molecular Life Sciences: CMLS logoLink to Cellular and Molecular Life Sciences: CMLS
. 2003 Oct;60(10):2084–2099. doi: 10.1007/s00018-003-3062-3

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

H Tronchère 1,, A Buj-Bello 2, J-L Mandel 2, B Payrastre 1
PMCID: PMC11138850  PMID: 14618257

Abstract

Phosphoinositides play a central role in the control of major eukaryotic cell signaling mechanisms. Accordingly, the list of phosphoinositide-metabolizing enzymes implicated in human diseases has considerably increased these last years. Here we will focus on myotubularin, the protein mutated in the X-linked myotubular myopathy (XLMTM) and the founding member of a family of 13 related proteins. Recent data demonstrate that myotubularin and several other members of the family are potent lipid phosphatases showing a marked specificity for phosphatidylinositol 3-phosphate [PtdIns(3)P]. This finding has raised considerable interest as PtdIns(3)P is implicated in vesicular trafficking and sorting through its binding to specific protein domains. The structure of myotubularin, the molecular mechanisms of its function and its implication in the etiology of XLMTM will be discussed, as well as the potential function and role of the other members of the family.

Keywords: Myotubularin, myotubular myopathy, Charcot-Marie-Tooth disease, phosphoinositides, phosphoinositide phosphatase

Footnotes

Received 14 February 2003; received after revision 10 April 2003; accepted 14 April 2003


Articles from Cellular and Molecular Life Sciences: CMLS are provided here courtesy of Springer

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