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

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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Bibliographic Details
Main Authors: Emma R. Wilson, Umaiyal Kugathasan, Andrey Y. Abramov, Alex J. Clark, David L.H. Bennett, Mary M. Reilly, Linda Greensmith, Bernadett Kalmar
Format: Article
Language:English
Published: Elsevier 2018-09-01
Series:Neurobiology of Disease
Subjects:
Sphingolipid
Deoxysphingolipid
Neuron
Peripheral neuropathy
ES-285
Mitochondria
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118301463

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http://www.sciencedirect.com/science/article/pii/S0969996118301463

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