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Article

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Human molecular genetics - 1 Nov 2006

Tosch Valérie, Rohde Holger M, Tronchère Hélène, Zanoteli Edmar, Monroy Nancy, Kretz Christine, Dondaine Nicolas, Payrastre Bernard, Mandel Jean-Louis, Laporte Jocelyn

Abstract excerpt

In eukaryotic cells, phosphoinositides are lipid second messengers important for many cellular processes and have been found dysregulated in several human diseases. X-linked myotubular (centronuclear) myopathy is a severe congenital myopathy caused by mutations in a phosphatidylinositol 3-phospha...

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Source

Identifiers

PMID: 17008356
DOI: 10.1093/hmg/ddl250

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17008356-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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