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

Scientists at Northwestern University and University of California, Santa Barbara have created the first synthetic fragment of tau protein that acts like a prion. The "mini prion" folds and stacks ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

Mutations within the Complex Proteins Associated With Set1 (COMPASS) family of histone lysine methyltransferases are frequently found in many human diseases including cancer. Increasingly, these ...

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 ...

There is no known cure for Huntington's disease. A genetic mutation creates harmful proteins that accumulate and cause the disease's typical symptoms. A team from the Department of Human Genetics at ...

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 ...

Researchers discovered that a tiny structural feature of the enzyme GPX4 helps keep neurons safe. A rare mutation removes this protection, allowing harmful molecules to damage cell membranes and ...

A new study has identified specific cellular machinery that helps brain cells dispose of toxic proteins associated with ...

Observations of the small protrusions that line the dendrites of neurons, called spines, were critical in understanding the function of NMDA receptors in the new study, as well as a precursor to the ...