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Article

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

Biochimica et biophysica acta. Molecular and cell biology of lipids - 1 Sept 2023

Lone Museer A, Zeng Sen, Bourquin Florence, Wang Mengli, Huang Shunxiang, Lin Zhiqiang, Tang Beisha, Zhang Ruxu, Hornemann Thorsten

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). SPT activity, and thus SL de novo synthesis, is tightly controlled by a homeostatic feedback...

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PMID: 37348646
DOI: 10.1016/j.bbalip.2023.159359

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