Scientists at the Baylor College of Medicine say they have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called ...

A hallmark of Parkinson’s disease is the buildup of Lewy bodies — misfolded clumps of the protein known as alpha-synuclein. Long before Lewy bodies form, alpha-synuclein can interfere with neurons’ ...

A research team led by Purdue University's W. Andy Tao has discovered a new type of protein modification related to cellular mutation that impairs a crucial enzyme's ability to help drive energy ...

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 ...

The common wisdom is that each gene codes for one protein. Someone studying whether a patient has a mutation or version of a gene that contributes to their disease will therefore look for mutations ...

Blocking the brain protein EPAC2 reverses sensory hypersensitivity, social deficits, and seizures in Fragile X syndrome.

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 ...

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 ...