ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2005
Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 107 citations in OpenAlex.
- MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.Brain : a journal of neurology · 2025Article
- Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration.Brain communications · 2025Article
- Mitf is a Schwann cell sensor of axonal integrity that drives nerve repair.Cell reports · 2023Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.Brain : a journal of neurology · 2023Article
- Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.Brain sciences · 2021Review
- Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- New Species Can Broaden Myelin Research: Suitability of Little Skate,Life (Basel, Switzerland) · 2021Article
- Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.Frontiers in molecular neuroscience · 2021Review
- Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.Nature communications · 2020Article
- Review
- HDAC3 Regulates the Transition to the Homeostatic Myelinating Schwann Cell State.Cell reports · 2018Article
- HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System.Molecular neurobiology · 2018Article
- Article
- Nectin-like 4 Complexes with Choline Transporter-like Protein-1 and Regulates Schwann Cell Choline Homeostasis and Lipid BiogenesisThe Journal of biological chemistry · 2017Article
- Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.EMBO molecular medicine · 2016Article
- SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.Human molecular genetics · 2016Article
- Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2016Article
- Kif13b Regulates PNS and CNS Myelination through the Dlg1 Scaffold.PLoS biology · 2016Article
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Authors and funding
13 authors at 2 institutions in 1 country.
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Abstract
Mutations in MTMR2, the myotubularin-related 2 gene, cause autosomal recessive Charcot-Marie-Tooth type 4B1 (CMT4B1). This disorder is characterized by childhood onset of weakness and sensory loss, severely decreased nerve conduction velocity, demyelination in the nerve with myelin outfoldings, and severe functional impairment of affected patients, mainly resulting from loss of myelinated fibers in the nerve. We recently generated Mtmr2-null(neo) mice, which show a dysmyelinating neuropathy with myelin outfoldings, thus reproducing human CMT4B1. Mtmr2 is detected in both Schwann cells and neurons, in which it interacts with discs large 1/synapse-associated protein 97 and neurofilament light chain, respectively. Here, we specifically ablated Mtmr2 in either Schwann cells or motor neurons. Disruption of Mtmr2 in Schwann cells produced a dysmyelinating phenotype very similar to that of the Mtmr2-null(neo) mouse. Disruption of Mtmr2 in motor neurons does not provoke myelin outfoldings nor axonal defects. We propose that loss of Mtmr2 in Schwann cells, but not in motor neurons, is both sufficient and necessary to cause CMT4B1 neuropathy. Thus, therapeutical approaches might be designed in the future to specifically deliver the Mtmr2 phospholipid phosphatase to Schwann cells in affected nerves.
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