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

Researchers are adding new evidence to the emerging concept that 'silent' or synonymous mutations may have crucial consequences. Their study showed how a synonymous mutation in one gene can ...

Researchers have created the first complete map showing how hundreds of mutations in a key cancer gene affect tumor growth.

One genetic mutation may transform the way we treat rheumatoid arthritis, a disease that will affect an estimated one percent of the world. York University researchers have identified a mutation in ...

A research team led by Prof. XU Zhiheng from the Institute of Genetics and Developmental Biology of the Chinese Academy of Sciences has identified Tapt1, together with its partner Suco, as important ...

Genetic diseases that result from truncated proteins can be targeted by so-called nonsense suppression therapies—drugs that prevent protein translation from terminating prematurely. A new ...

Researchers in Class of 1942 Professor of Chemistry Matthew D. Shoulders' lab have uncovered a sinister hidden mechanism that can allow cancer cells to survive (and, in some cases, thrive) even when ...

A comprehensive analysis of over 500,000 human protein variants reveals that 60% of disease-causing missense mutations reduce protein stability In a recent study published in Nature, researchers used ...