Mutations to the protein SPOP are widespread in cancer, yet many remain poorly understood. To address this gap, St. Jude ...

Malignant melanoma is one of the most dangerous forms of cancer. Around half of melanomas and about 7% of all other cancers ...

In a study published in the journal Nature, researchers from the Center for Genomic Regulation (CRG) and the Wellcome Sanger Institute have discovered that mutations affect protein stability following ...

Investigating how proteins interact is key to understanding how cells work and communicate. In a new study published in Nature Communications, FMI researchers have provided key insights into how ...

A study in the journal Pharmaceuticals has uncovered how specific genetic mutations in α 2 δ-1 and α 2 δ-3 proteins linked to autism spectrum disorders (ASD) alter neuronal functionality. These ...

Thousands of previously “invisible” microproteins—tiny chains of fewer than 100 amino acids—can profoundly change human biology when mutated. A fundamental discovery is overturning decades of ...

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 ...

In simple terms: a mutation is a stable change in genetic sequence that can be copied when cells or viruses replicate. Most mutations have no detectable effect, some contribute to disease, and a small ...

Researchers have taken a significant step forward in understanding the stability of proteins by leveraging the power of AI. The research team used AlphaFold2 to explore how mutations affect protein ...

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' ...