The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...

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 ...

“Our focus is on SCN2A mutations where the fundamental issue is a lack of functional protein,” said Jason Curry, Co-Founder of the SCN2A Foundation. “By partnering with Unravel Biosciences, we are ...

Researchers found that paired pathogenic variants can restore protein function rather than make it worse. This phenomenon ...

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.

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 ...

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 ...

Scientists have discovered how a mitochondrial mutation rewires immune function in a model of inherited primary mitochondrial disorders, which often lead to severe disability and death. They have ...