The SCN2A Foundation today announced a research collaboration with Unravel Biosciences, Inc., an AI-enabled therapeutics company established to advance drugs for complex diseases. The collaboration ...
More than 300 mutations in PSEN1 have been catalogued, but none are quite like the one Bart De Strooper and colleagues at the Flanders Institute for Biotechnology in Leuven, Belgium, reported on ...
Angiopoietin-like protein 3 (ANGPTL3) inhibits lipoprotein and endothelial lipases. ANGPTL3 loss-of-function genetic variants are associated with decreased levels of low-density lipoprotein ...
Researchers have identified a mechanism which can explain aspects of neurodegeneration which have baffled scientists for ...
Researchers employed a programmable DNA base editing technology to introduce a knockout mutation in the ND5 mitochondria gene, aiming to investigate the resulting genotypic and phenotypic changes.
Dominika Pilat, PhD, and Ana Griciuc, PhD, of the Department of Neurology at Massachusetts General Hospital are the lead and senior authors of a paper published in Neuron, "The Gain-of-Function ...
Researchers found that paired pathogenic variants can restore protein function rather than make it worse. This phenomenon ...
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Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies
Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
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