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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保存先:
書誌詳細
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2010
主題:
Lipids
オンライン･アクセス: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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