Article

WFS1 <sup>E864K</sup> in humans and mice causes Wolfram-like syndrome optic atrophy via early axonal mitochondrial dysfunction

2025-10-14

Abstract excerpt

Wolfram-like syndrome leads to retinal ganglion cell degeneration and vision loss. Wolfram-like syndrome is primarily caused by variants in the WFS1 gene, which encodes an endoplasmic reticulum resident transmembrane protein, Wolframin. To date, the disease mechanism remains unclear, and no therapies are available. Here, we generated a mouse model carrying the pathogenic WFS1 E864K allele that recapitulated key...

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Literature Corpus work: 4fc8d28e-67cc-5b86-8a2b-ea47f97480c6
DOI: 10.1101/2025.10.13.682105

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