Ion channels are emerging as regulators of intracellular signalling pathway, yet the molecular mechanisms underlying this role remain poorly understood. KCNQ1, a potassium channel with tumour ...

Myostatin negatively regulates skeletal muscle size in multiple species, and therefore, myostatin blockade has been therapeutically explored to promote muscle growth in humans, including to counter ...

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 ...

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 ...

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 ...

ZRSR2 mutations are linked to JAK2 V617R-driven MPNs but are insufficient alone for disease progression. CRISPR-Cas9 studies showed ZRSR2 loss causes intron retention and transcriptional changes ...

In a study published in Neuron, a research team at the Department of Neurology at Massachusetts General Hospital, aimed to understand how immune cells of the brain, called microglia, contribute to ...

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 ...

Mutations in FMR1, the gene encoding fragile X messenger ribonucleoprotein 1 (FMRP), located at Xq27.3 and discovered in 1991, are the leading single-gene causes of autism and intellectual disability.

Studying mice, researchers at Toronto’s Sinai Health have found that semaglutide—the active ingredient in popular weight loss drugs that mimic the gut hormone GLP-1—acts directly on a subset of liver ...