Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

Charcot-Marie-Tooth type 4B1 (CMT4B1) is a severe autosomal recessive demyelinating neuropathy with childhood onset, caused by loss-of-function mutations in the myotubularin-related 2 (MTMR2) gene. MTMR2 is a ubiquitously expressed catalytically active 3-phosphatase, which in vitro dephosphorylates...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Guerrero-Valero, Marta, Grandi, Federica, Cipriani, Silvia, Alberizzi, Valeria, Di Guardo, Roberta, Chicanne, Gaetan, Sawade, Linda, Bianchi, Francesca, Del Carro, Ubaldo, De Curtis, Ivan, Pareyson, Davide, Parman, Yesim, Schenone, Angelo, Haucke, Volker, Payrastre, Bernard, Bolino, Alessandra
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2021
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7958260/
https://ncbi.nlm.nih.gov/pubmed/33653949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2009469118
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