Article

Lysosome-Dependent Sphingolipid Regulation as a potential therapeutic Target for Cohen Syndrome

2025-09-04

Abstract excerpt

<h4>ABSTRACT</h4> Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the VPS13B gene, affecting approximately 50,000 individuals worldwide. Clinical features include postnatal microcephaly, developmental delay, intellectual disability, neutropenia, and retinal dystrophy. VPS13B belongs to the bridge-like lipid transfer protein (BLTP) family, which also includes VPS13A, VP...

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Literature Corpus work: 545a5854-27c4-5548-932c-a6f3e2794d82
DOI: 10.1101/2025.09.04.674037

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