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Cerebral small vessel disease (SVD) is a prevalent disease of aging and a major contributor to stroke and dementia. The most commonly inherited SVD, CADASIL, is caused by dominantly acting cysteine-altering mutations in NOTCH3. These mutations change the number of cysteines from an even to an odd nu...
ORGANISM(S): Homo sapiens (Human) 
2022-05-20 | PXD031097 | Pride
The cytokine interferon-gamma (IFN-gamma) is used as a drug to treat Chronic Granulomatous Disease (CGD), a group of genetic disorders characterized by defects in components of the neutrophil-resident NADPH oxidase/Nox2 enzyme system. Administration of IFN-gamma to these patients results in decreas...
ORGANISM(S): Homo sapiens 
The NuA4 histone acetyltransferase (HAT) complex is required for gene specific regulation, cell cycle progression, and DNA repair. Dissection of the 13-subunit complex reveals that the Eaf7 subunit bridges Eaf5 with Eaf3, a H3K36me3-binding chromodomain protein, and this Eaf5/7/3 trimer is anchored ...
ORGANISM(S): Saccharomyces cerevisiae 
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