A hallmark of Parkinson's disease is the buildup of Lewy bodies—misfolded clumps of the protein known as alpha-synuclein.

A study by University of Manchester scientists using fruit flies as model has identified a mechanism which can explain aspects of neurodegeneration which have baffled scientists for decades.

Unstable proteins are the main drivers of many different heritable diseases, according to a new study, including genetic disorders responsible for the formation of cataracts, and different types of ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Google unveils AI that can predict how DNA mutations cause disease - ‘This could add another piece of the puzzle for the ...

The γ-secretase enzyme complex—abandoned as a drug target after candidate molecules proved toxic—is getting another look. New research has correlated the degree to which presenilin mutations affect ...

UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism spectrum disorder affect early brain development, providing new insights ...

Francesco Crea is currently funded by a Prostate Cancer UK grant to develop epigenetic cancer therapies. He has also received research funding from Belgian Volition to test cancer biomarkers. Though ...

Now, more than two decades later, researchers homed in on a mutation in the gene zinc finger homeobox protein 3 (ZFHX3), a transcriptional regulator that seems to mess with a cell’s ability to perform ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...