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

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 fibroblas...

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Detalles Bibliográficos
Autores principales: Edgar, James R., Ho, Anita K., Laurá, Matilde, Horvath, Rita, Reilly, Mary M., Luzio, J. Paul, Roberts, Rhys C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559459/
https://www.ncbi.nlm.nih.gov/pubmed/33059769
http://dx.doi.org/10.1186/s40478-020-01043-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7559459/
https://www.ncbi.nlm.nih.gov/pubmed/33059769
http://dx.doi.org/10.1186/s40478-020-01043-z

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