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The Wolfram-like variant WFS1 <sup>E864K</sup> destabilizes MAM and compromises autophagy and mitophagy in human and mice

2023-11-17

Abstract excerpt

Dominant variants in WFS1 , a gene coding for the mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein Wolframin, have been associated with Wolfram-like syndrome (WLS). In vitro and in vivo , WFS1 loss results in reduced ER to mitochondria calcium (Ca 2+ ) transfer, mitochondrial dysfunction, and enhanced autophagy and mitophagy. However, in WLS pathological context, whether the m...

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Literature Corpus work
2b1264f2-2be9-5ca9-8877-6bd8264d8443
DOI
10.1101/2023.11.16.567320
Open publication

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The Wolfram-like variant WFS1 <sup>E864K</sup> destabilizes MAM and compromises autophagy and mitophagy in human and miceDOI 10.1101/2023.11.16.567320
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