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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2004
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172586/
https://www.ncbi.nlm.nih.gov/pubmed/15557122
http://dx.doi.org/10.1083/jcb.200407010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172586/
https://www.ncbi.nlm.nih.gov/pubmed/15557122
http://dx.doi.org/10.1083/jcb.200407010

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