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

The demyelinating peripheral neuropathy Charcot–Marie–Tooth type 4B (CMT4B) is characterized by axonal degeneration and myelin outfoldings. CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphoryl...

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Bibliographische Detailangaben
Hauptverfasser: Ng, Aubree A., Logan, Anne M., Schmidt, Eric J., Robinson, Fred L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2013
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3605828/
https://ncbi.nlm.nih.gov/pubmed/23297362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds562
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