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Article

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

Neuromuscular disorders : NMD - 1 Oct 2002

Dawkins Jennifer L, Brahmbhatt Sonal, Auer-Grumbach Michaela, Wagner Klaus, Hartung Hans-Peter, Verhoeven Kristien, Timmerman Vincent, De Jonghe Peter, Kennerson Marina, LeGuern Eric, Nicholson Garth A

Abstract excerpt

Recently point mutations in the SPTLC1 subunit of serine palmitoyltransferase have been shown to cause the common form of dominant hereditary sensory neuropathy (HSN1). Serine palmitoyltransferase (SPT) is a heterodimeric molecule made up of two subunits, SPTLC1 and SPTLC2. Twelve index patients from families with presumed genetic sensory neuropathies were screened for SPTLC2 mutations. These families comprised...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12207934
DOI: 10.1016/s0960-8966(02)00015-9

Genes

SPTLC2
SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.PMID 12207934Read ↗

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

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

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 ↗

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

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

The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.Semantic proximity Read ↗

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

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.Semantic proximity Read ↗

Activity of partially inhibited serine palmitoyltransferase is sufficient for normal sphingolipid metabolism and viability of HSN1 patient cells.Semantic proximity Read ↗

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

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

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