Article

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

2023-12-30

Abstract excerpt

<h4>Aims/hypothesis</h4> 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 for Wolframin, a master regulator of several cellular responses, whose mutations associate with clinical variability. Indeed, nonsense/frameshift variants correlate with more severe symptoms than missense/in-frame...

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Literature Corpus work: 46558caa-cbe8-55b6-90d7-d8c3384aebbf
DOI: 10.1101/2023.12.29.573188

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