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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Detalhes bibliográficos
Publicado no:Neurobiol Dis
Main Authors: Wilson, Emma R., Kugathasan, Umaiyal, Abramov, Andrey Y., Clark, Alex J., Bennett, David L.H., Reilly, Mary M., Greensmith, Linda, Kalmar, Bernadett
Formato: Artigo
Idioma:Inglês
Publicado em: Academic Press 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060082/
https://ncbi.nlm.nih.gov/pubmed/29778900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2018.05.008
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