Article

Lack of motor defects and ALS-like neuropathology in heterozygous <i>Sptlc1</i> Exon 2 deletion mice

2025-02-23

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 an...

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Literature Corpus work: bd621853-861e-5e07-81a6-605c53f5fd04
DOI: 10.1101/2025.02.18.638951

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