Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.

The Journal of biological chemistry - 9 Apr 2010

Penno Anke, Reilly Mary M, Houlden Henry, Laurá Matilde, Rentsch Katharina, Niederkofler Vera, Stoeckli Esther T, Nicholson Garth, Eichler Florian, Brown Robert H, von Eckardstein Arnold, Hornemann Thorsten

Abstract excerpt

HSAN1 is an inherited neuropathy found to be associated with several missense mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation of serine and palmitoyl-CoA, the initial step in the de novo synthesis of sphingolipids. Here we show that the HSAN1 mutations induce a shift in the substrate specificity of SPT, which leads to the formation of the two atypical...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chick Embryo
Share to Fumonisins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hereditary Sensory and Autonomic Neuropathies

Share to Lymphocytes

Share to Neurites

Share to Neurotoxins

Share to Serine C-Palmitoyltransferase

Share to Sphingolipids

Source

Open in PubMed Open full text

Identifiers

PMID: 20097765
DOI: 10.1074/jbc.M109.092973
PMCID: PMC2856995

Genes

SPTLC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.PMID 20097765Read ↗

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

Sphingolipid remodelling in SPT-related neuropathiesSemantic proximity Read ↗

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

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

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.Semantic proximity Read ↗

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

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

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

⌁Select a neighboring publication to make it the new centre.