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

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 ...

Many people are familiar with histamine, a biological molecule that serves as a key driver of allergic reactions and other ...

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 ...

An international research team reveals new molecular mechanisms associated with pathogenic mutations in the protein ...

Findings bolster the idea that the functions of this protein -- MeCP2 -- are more centered on nucleosomes, rather than other forms of DNA. One particular protein lies at the heart of brain development ...

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 ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...

In a recent study published in PLOS Pathogens, researchers investigated a highly variable region at residues 203 to 205 in the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) nucleocapsid ...