Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT). SPT catalyzes the first step of de novo sphingolipid synthesis. Mutations in SPT res...

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Detalles Bibliográficos
Autores principales: Wilson, Emma R., Kugathasan, Umaiyal, Abramov, Andrey Y., Clark, Alex J., Bennett, David L.H., Reilly, Mary M., Greensmith, Linda, Kalmar, Bernadett
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060082/
https://www.ncbi.nlm.nih.gov/pubmed/29778900
http://dx.doi.org/10.1016/j.nbd.2018.05.008

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