A novel WFS1 variant associated with isolated congenital cataracts
Cold Spring Harb Mol Case Stud. 2023 Feb 13:mcs.a006259. doi: 10.1101/mcs.a006259. Online ahead of print. ABSTRACT Biallelic variants in the WFS1 gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, […]
Coupling of autophagy and the mitochondrial intrinsic apoptosis pathway modulates proteostasis and ageing in Caenorhabditis elegans
Cell Death Dis. 2023 Feb 11;14(2):110. doi: 10.1038/s41419-023-05638-x. ABSTRACT Mitochondria preserve metabolic homeostasis and integrate stress signals, to trigger cytoprotective, or cell death pathways. Mitochondrial homeostasis and function decline with age. The mechanisms underlying the deterioration of mitochondrial homeostasis during ageing, or in age-associated pathologies, remain unclear. Here, we show that CISD-1, a mitochondrial iron-sulfur […]