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Article

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

Human molecular genetics - 15 Nov 2005

McCampbell Alexander, Truong David, Broom Daniel C, Allchorne Andrew, Gable Ken, Cutler Roy G, Mattson Mark P, Woolf Clifford J, Frosch Matthew P, Harmon Jeffrey M, Dunn Teresa M, Brown Robert H

Abstract excerpt

Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause hereditary sensory and autonomic neuropathy (type I) (HSAN1), an adult onset, autosomal dominant...

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Source

Identifiers

PMID: 16210380
DOI: 10.1093/hmg/ddi380

Genes

SPTLC1
ATF3

Variants

Provenance

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.PMID 16210380Read ↗

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

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental DisordersSemantic proximity Read ↗

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

Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.Semantic proximity Read ↗

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.Semantic proximity Read ↗

SPTLC1 is mutated in hereditary sensory neuropathy, type 1.Semantic proximity Read ↗

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

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.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 ↗

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

Characterization of novel and recurrent SPTLC2 variants in childhood-onset amyotrophic lateral sclerosis: Insights into sphingolipid dysregulation.Semantic proximity Read ↗

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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