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Article

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.

Diabetologia - 1 Jan 2025

Chimienti Raniero, Torchio Silvia, Siracusano Gabriel, Zamarian Valentina, Monaco Laura, Lombardo Marta Tiffany, Pellegrini Silvia, Manenti Fabio, Cuozzo Federica, Rossi Greta, Carrera Paola, Sordi Valeria, Broccoli Vania, Bonfanti Riccardo, Casari Giorgio, Frontino Giulio, Piemonti Lorenzo

Abstract excerpt

AIMS/HYPOTHESIS: Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolframin, a master regulator of several cellular responses, and the gene's mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39520565
DOI: 10.1007/s00125-024-06307-0
PMCID: PMC11663190

Genes

WFS1
SMG7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.PMID 39520565Read ↗

A <i>WFS1</i> variant disrupting acceptor splice site uncovers the impact of alternative splicing on β cell apoptosis in a patient with Wolfram syndromeSemantic proximity Read ↗

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