Article

SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS

2022-02-08

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neuromuscular disease. Recently, several gain-of-function mutations in SPTLC1 were associated with juvenile ALS. SPTLC1 encodes for a subunit of the serine-palmitoyltransferase (SPT) - the rate-limiting enzyme in the de novo synthesis of sphingolipids (SL). Here we identified a novel SPTLC1p . L38R mutation in a young Chinese girl with a signature...

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Identifiers and source

Literature Corpus work: 0ab41deb-414b-5c4a-9c3c-989bfd30a735
DOI: 10.1101/2022.02.07.22269609

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