Article

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

2022-07-20

Abstract excerpt

<h4>Summary</h4> Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes and neurological deficits are the most prominent. WFS1 encodes for the endoplasmic reticulum (ER) resident transmembrane protein Wolframin with multiple functions in ER processes. However, the WFS1 -dependent etiopathology...

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Literature Corpus work: 45887382-d17a-54d8-8670-95525a9b2571
DOI: 10.1101/2022.07.18.500452

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