No gene acts alone: interacting variants and protein partnerships can worsen, mask or even rescue disease risk, demanding ...

Scientists have long known that inherited neurodegenerative disorders, including Alzheimer's, Parkinson's or motor neuron ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

A study suggests overactive VCP may contribute to ALS nerve damage by disrupting nuclear pore proteins in genetic ALS.

The functioning of neurons, cells that transmit information in the nervous system, heavily relies on the production of ...

A study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...

Mutations in genes that form the desmosome are the most common cause of the cardiac disease arrhythmogenic cardiomyopathy (ACM), which affects one in 2000 to 5000 people worldwide. Researchers have ...

In a recent study posted to the bioRxiv* preprint server, researchers assessed the effects of N501Y mutation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike (S) protein on ...