A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot–Marie–Tooth disease

Abstract Autosomal dominant mutations in LITAF are responsible for the rare demyelinating peripheral neuropathy, Charcot–Marie–Tooth disease type 1C (CMT1C). The LITAF protein is expressed in many human cell types and we have investigated the consequences of two different LITAF mutations in primary...

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Váldodahkkit: James R. Edgar, Anita K. Ho, Matilde Laurá, Rita Horvath, Mary M. Reilly, J. Paul Luzio, Rhys C. Roberts
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: BMC 2020-10-01
Ráidu:Acta Neuropathologica Communications
Fáttát:
Charcot–Marie–Tooth
Peripheral neuropathy
LITAF
Endosome
Lysosome
Phosphoinositide
Liŋkkat:http://link.springer.com/article/10.1186/s40478-020-01043-z

Interneahtta

http://link.springer.com/article/10.1186/s40478-020-01043-z

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