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 ...
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 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.
Researchers have identified a mechanism which can explain aspects of neurodegeneration which have baffled scientists for ...
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 ...
No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...
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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 ...
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 ...
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