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

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

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 ...

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 ...

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

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

The γ-secretase enzyme complex—abandoned as a drug target after candidate molecules proved toxic—is getting another look. New research has correlated the degree to which presenilin mutations affect ...

OCTOBER 10, 2024, NEW YORK – A Ludwig Cancer Research study has punctured a longstanding assumption about the source of the most common type of DNA mutation seen in the genome—one that contributes to ...

In 1992, Judith Frydman, PhD, discovered a molecular complex with an essential purpose in all of our cells: folding proteins correctly. The complex, a type of "protein chaperone" known as TRiC, helps ...

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 ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...