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Article

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.

The Journal of cell biology - 22 Nov 2004

Bolino Alessandra, Bolis Annalisa, Previtali Stefano Carlo, Dina Giorgia, Bussini Simona, Dati Gabriele, Amadio Stefano, Del Carro Ubaldo, Mruk Dolores D, Feltri Maria Laura, Cheng C Yan, Quattrini Angelo, Wrabetz Lawrence

Abstract excerpt

Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth (CMT) type 4B1, a demyelinating neuropathy with myelin outfolding and azoospermia. MTMR2 encodes a ubiquitously expressed phosphatase whose preferred substrate is phosphatidylinositol (3,5)-biphosphate, a regulator of membrane homeostasis and vesicle transport. We generated Mtmr2-null mice, which develop progressive...

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Source

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Identifiers

PMID: 15557122
DOI: 10.1083/jcb.200407010
PMCID: PMC2172586

Genes

MTMR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.PMID 15557122Read ↗

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

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

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 ↗

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

<i>DNM2</i> -CMT neuropathy stems from disrupted Schwann cell function and shows limited therapeutic reversibilitySemantic proximity Read ↗

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

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Defective Schwann cell lipid metabolism alters plasma membrane dynamics in Charcot-Marie-Tooth disease 1ASemantic proximity Read ↗

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Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.Semantic proximity Read ↗

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