Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

HSAN1 is an inherited neuropathy found to be associated with several missense mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation of serine and palmitoyl-CoA, the initial step in the de novo synthesis of sphingolipids. Here we show that the HSAN1 muta...

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Autors principals: Penno, Anke, Reilly, Mary M., Houlden, Henry, Laurá, Matilde, Rentsch, Katharina, Niederkofler, Vera, Stoeckli, Esther T., Nicholson, Garth, Eichler, Florian, Brown, Robert H., von Eckardstein, Arnold, Hornemann, Thorsten
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2010
Matèries:
Lipids
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2856995/
https://ncbi.nlm.nih.gov/pubmed/20097765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M109.092973
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