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Article

Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 18 Nov 2009

Eichler Florian S, Hornemann Thorsten, McCampbell Alex, Kuljis Dika, Penno Anke, Vardeh Daniel, Tamrazian Eric, Garofalo Kevin, Lee Ho-Joon, Kini Lohit, Selig Martin, Frosch Matthew, Gable Ken, von Eckardstein Arnold, Woolf Clifford J, Guan Guiman, Harmon Jeffrey M, Dunn Teresa M, Brown Robert H

Abstract excerpt

Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT) cause an adult-onset, hereditary sensory, and autonomic neuropathy type I (HSAN1). We previously reported that mice bearing a transgene-expressing mutant SPTLC1 (tgSPTLC1(C133W)) show a reduction in SPT activity and hyperpathia at 10 months of age. Now analyzed at a later age, we find these mice develop sensory loss with a distal small fiber...

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Identifiers

PMID: 19923297
DOI: 10.1523/JNEUROSCI.2536-09.2009
PMCID: PMC3849752

Genes

SPTLC1

Variants

Provenance

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Related research

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Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.PMID 19923297Read ↗

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.Semantic proximity Read ↗

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.Semantic proximity Read ↗

HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Semantic proximity Read ↗

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1Semantic proximity Read ↗

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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.Semantic proximity Read ↗

Identification of dietary alanine toxicity and trafficking dysfunction in a Drosophila model of hereditary sensory and autonomic neuropathy type 1.Semantic proximity Read ↗

SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteinsSemantic proximity Read ↗

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SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteinsSemantic proximity Read ↗

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