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.

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 ...

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 ...

A study led by biomedical scientists at the University of California, Riverside School of Medicine shows how a genetic mutation associated with Crohn's disease can worsen iron deficiency and anemia - ...