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Article

Deletion of exon 2 in ALS-linked Sptlc1 causes lethality in homozygous mice but not in heterozygotes.

Life science alliance - 1 Sept 2026

Pant Devesh C, Lone Museer A, Parameswaran Janani, Ma Fuying, Ziak Nicole, Dutta Prisha, Wang Zitong, Pun Daniel, Verma Sumit, Hornemann Thorsten, Jiang Jie

Abstract excerpt

Mutations in the human SPTLC1 gene have recently been linked to early-onset amyotrophic lateral sclerosis (ALS), characterized by global atrophy, motor impairments, and symptoms such as tongue fasciculations. All known ALS-linked SPTLC1 mutations cluster within exon 2, and a specific variant, c.58G>T, results in exon 2 skipping. However, it is unclear how the exon 2 deletion affects SPTLC1 function in vivo and...

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Source

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Identifiers

PMID: 42392979
DOI: 10.26508/lsa.202503605
PMCID: PMC13329131

Genes

SPTLC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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