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Article

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.

PLoS genetics - 1 Oct 2011

Vaccari Ilaria, Dina Giorgia, Tronchère Hélène, Kaufman Emily, Chicanne Gaëtan, Cerri Federica, Wrabetz Lawrence, Payrastre Bernard, Quattrini Angelo, Weisman Lois S, Meisler Miriam H, Bolino Alessandra

Abstract excerpt

We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. MTMR2 dephosphorylates both PtdIns3P and PtdIns(3,5)P(2), thereby regulating membrane trafficking. However, the function of MTMR2 and the role of the MTMR2...

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Source

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Identifiers

PMID: 22028665
DOI: 10.1371/journal.pgen.1002319
PMCID: PMC3197679

Genes

MTMR2
FIG4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.PMID 22028665Read ↗

The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression.Semantic proximity Read ↗

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

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.Semantic proximity Read ↗

Protective role of the lipid phosphatase Fig4 in the adult nervous system.Semantic proximity Read ↗

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.Semantic proximity Read ↗

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Semantic proximity Read ↗

Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.Semantic proximity Read ↗

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.Semantic proximity Read ↗

Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelinationSemantic proximity Read ↗

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.Semantic proximity Read ↗

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.Semantic proximity Read ↗

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