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Article

Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.

Proceedings of the National Academy of Sciences of the United States of America - 20 Oct 2015

Zhao Lihong, Spassieva Stefka, Gable Kenneth, Gupta Sita D, Shi Lan-Ying, Wang Jieping, Bielawski Jacek, Hicks Wanda L, Krebs Mark P, Naggert Juergen, Hannun Yusuf A, Dunn Teresa M, Nishina Patsy M

Abstract excerpt

Sphingolipids typically have an 18-carbon (C18) sphingoid long chain base (LCB) backbone. Although sphingolipids with LCBs of other chain lengths have been identified, the functional significance of these low-abundance sphingolipids is unknown. The LCB chain length is determined by serine palmitoyltransferase (SPT) isoenzymes, which are trimeric proteins composed of two large subunits (SPTLC1 and SPTLC2 or...

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Source

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Identifiers

PMID: 26438849
DOI: 10.1073/pnas.1516733112
PMCID: PMC4620873

Genes

SPTLC1
SPTLC2
SPTLC3

Provenance

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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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration.PMID 26438849Read ↗

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