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Vitamin B 12 alleviates Verheij syndrome-like defects via phospholipid remodeling in a C. elegans PUF60 spliceosomopathy model

2025-09-30

Abstract excerpt

Verheij syndrome (VRJS) is a rare genetic disorder caused by mutations in the poly(U)-binding splicing factor 60 (PUF60), a core component of the spliceosomal complex. VRJS triggers multiple congenital anomalies, but the underlying pathomechanisms remain poorly understood. Mutation of the Caenorhabditis elegans PUF60 ortholog, rnp-6 , recapitulates several hallmarks of VRJS, including growth delay and smaller bo...

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Literature Corpus work: 57eee3f4-fa76-5f37-a004-0ecedd28e796
DOI: 10.1101/2025.09.29.678827

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Vitamin B <sub>12</sub> alleviates Verheij syndrome-like defects via phospholipid remodeling in a <i>C. elegans</i> PUF60 spliceosomopathy model

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