Article
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
Human mutation - 1 Jun 2011
Rotthier Annelies, Penno Anke, Rautenstrauss Bernd, Auer-Grumbach Michaela, Stettner Georg M, Asselbergh Bob, Van Hoof Kim, Sticht Heinrich, Lévy Nicolas, Timmerman Vincent, Hornemann Thorsten, Janssens Katrien
Abstract excerpt
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy leading to progressive distal sensory loss and severe ulcerations. Mutations in SPTLC1 and SPTLC2, encoding the two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the first and rate-limiting step in the de novo synthesis of sphingolipids, have been reported to cause HSAN-I. Here, we demonstrate...
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