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

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

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 ...

A mutation in a newly discovered small protein is connected to a significant increase in the risk for Alzheimer's disease, expanding the known gene targets for the disease and presenting a new ...

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 ...

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 ...

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 ...

GRB2-SH3 is a protein with 34 amino acids, each which can be mutated into 19 different amino acids. This can result in 17 billion different combinations of the protein if only a single change allowed ...