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Article

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

The Journal of clinical investigation - 1 Nov 2002

Bejaoui Khemissa, Uchida Yoshikazu, Yasuda Satoshi, Ho Mengfatt, Nishijima Masahiro, Brown Robert H, Holleran Walter M, Hanada Kentaro

Abstract excerpt

Hereditary sensory neuropathy type 1 (HSN1) is a dominantly inherited degenerative disorder of the peripheral nerves. HSN1 is clinically and genetically heterogeneous. One form arises from mutations in the gene SPTLC1 encoding long-chain base 1 (LCB1), one of two subunits of serine palmitoyltransferase (SPT), the enzyme catalyzing the initial step of sphingolipid synthesis. We have examined the effects of the...

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Identifiers

PMID: 12417569
DOI: 10.1172/JCI16450
PMCID: PMC151618

Genes

SPTLC1

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Related research

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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.PMID 12417569Read ↗

Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.Semantic proximity Read ↗

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

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

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated.Semantic proximity Read ↗

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

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.Semantic proximity Read ↗

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype.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 ↗

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.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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