Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...
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 how a single mutation in the GPX4 enzyme causes neurons to undergo ferroptosis, leading to severe early-onset dementia.
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 ...
The first 100 bases of many genes show excess mutations, revealing a major genomic weak spot that shapes disease risk and highlights hidden patterns of inherited change.