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

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 ...

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

The most common cause of inherited prion diseases is the E200K mutation of the prion protein (PrP). It is often thought that this mutation causes disease by making PrP more susceptible to misfolding ...

Parkinson's disease (PD) is a debilitating and progressive neurodegenerative disorder caused by the loss of ...

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called ...

Influenza cases are down across the United States, but a new flu strain mutation identified in August is causing a spike in ...

Sickle cell disease is a hereditary condition, which means a person inherits it from their biological parents. The condition occurs when a person inherits two copies of the hemoglobin beta (HBB) gene ...