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Uniting the divergent Wolfram syndrome–linked proteins WFS1 and CISD2 as modulators of Ca2+ signaling

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Mutations in WFS1 (which encodes Wolframin, WFS1) and CISD2 (which encodes CDGSH iron sulfur domain 2) re-sult in Wolfram syndrome (WS), a rare genetic disorder that starts with juvenile diabetes and progresses to neuro-logical dysfunction. WFS1 and CISD2 belong to different protein families with distinct properties. Despite differences between WFS1 and CISD2, loss-of-function mutations in these proteins result in similar disease phe-notypes, suggesting that they have convergent roles. WFS1 and CISD2 both localize at the endoplasmic reticulum (ER), the main intracellular calcium (Ca2+) store, which is implicated in several diseases, including WS. Here, we not only review the roles of WFS1 and CISD2 in Ca2+ signaling modulation but also point out knowledge gaps. Because WFS1 and CISD2 form complexes with Ca2+ transporters and Ca2+ channels, it is thought that they influence the activity of these transport systems in cells. Together, the studies reviewed here provide a better understanding of the pathogenesis and the severe disease burden of WS and may contribute to the development of therapeutics.
Tijdschrift: Science Signaling
ISSN: 1945-0877
Issue: 702
Volume: 14
Pagina's: 1 - 10
Jaar van publicatie:2021
Trefwoorden:Biochemie & -fysica en Moleculaire biologie, Celbiologie