Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites

GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT-GDAP1 can be axonal or demyelinating, with autosomal dominant or recessive inheritance, leading to phenotypic heterogeneity. Recessive GDAP1 variants cause a severe phenoty...

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Detalles Bibliográficos
Autores principales: Cantarero, Lara, García-Vargas, Gisela, Hoenicka, Janet, Palau, Francesc
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110396/
https://www.ncbi.nlm.nih.gov/pubmed/36912213
http://dx.doi.org/10.1242/bio.059707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110396/
https://www.ncbi.nlm.nih.gov/pubmed/36912213
http://dx.doi.org/10.1242/bio.059707

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