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Article

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.

Genes - 17 May 2022

Kölbel Heike, Kraft Florian, Hentschel Andreas, Czech Artur, Gangfuss Andrea, Mohassel Payam, Nguyen Chi, Stenzel Werner, Schara-Schmidt Ulrike, Preuße Corinna, Roos Andreas

Abstract excerpt

Serine palmitoyltransferase long chain base subunit 1 (SPTLC1) encodes a serine palmitoyltransferase (SPT) resident in the endoplasmic reticulum (ER). Pathological SPTLC1 variants cause a form of hereditary sensory and autonomic neuropathy (HSAN1A), and have recently been linked to unrestrained sphingoid base synthesis, causing a monogenic form of amyotrophic lateral sclerosis (ALS). It was postulated that the...

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Identifiers

PMID: 35627278
DOI: 10.3390/genes13050893
PMCID: PMC9140917

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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