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Article

Vitamin B12 alleviates spliceosomopathy via phospholipid remodeling.

Nature communications - 7 Aug 2026

Kölschbach Jonathan, Dafsari Hormos S, Baum Emily, Löhrke Anna, Kew Chun, Dikic Ivan, Huang Wenming, Antebi Adam

Abstract excerpt

mRNA splicing represents a fundamental level of gene regulation that alters proteomic diversity and cellular state. Its dysfunction can profoundly rewire metabolism, yet underlying mechanisms remain elusive. Here, we investigate Verheij syndrome, caused by mutations in core splicing factor PUF60, using a Caenorhabditis elegans model, human cell lines, and patient-derived samples. We demonstrate that RNP-6/PUF60...

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Identifiers

PMID: 42567856
DOI: 10.1038/s41467-026-76295-9
PMCID: PMC13451374

Genes

PUF60

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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