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Yeast vacuoles, equivalent to lysosomes in other eukaryotes, are important acidic degradative organelles as well as storage compartments and signaling hubs. To perform these functions, they rely on important protein complexes, including the V-ATPase, responsible for organelle acidification. In this ...
ORGANISM(S): Saccharomyces cerevisiae (Baker's yeast) 
2024-03-11 | PXD046792 | Pride
We report a loss-of-function mutation in the TLDc domain of human Oxidation Resistance 1 (OXR1) gene, resulting in early-onset epilepsy, developmental delay, cognitive disabilities, and cerebellar atrophy. Patient lymphoblasts show impaired cell survival, proliferation, and hypersensitivity to oxida...
ORGANISM(S): Homo sapiens 
2023-04-06 | GSE206614 | GEO
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