genetics

USP13 regulates parkin and alpha-synuclein ubiquitination in models of alpha-synucleinopathies, a study from neurologists at Georgetown University Medical Center (GUMC) has found. One defining feature of Parkinson’s disease is the clumps of alpha-synuclein protein that accumulate in the brain’s motor control area, destroying dopamine producing neurons. Natural processes can’t clear these clusters, known as Lewy… Read more

A mutant form of the cancer prevention gene p53 ‘tackles’ the normal p53 protein and blocks it from carrying out its protective role, researchers at the Walter and Eliza Hall Institute report. As a result, p53 can no longer activate natural defences against cancer — such as the body’s DNA repair process — increasing the… Read more

Recent studies of complex brain disorders such as schizophrenia and autism spectrum disorder (ASD) have identified a few “master keys,” risk genes that sit at the center of a network of genes important for brain function. Researchers at Emory and the Chinese Academy of Sciences have now created mice partially lacking one of those master… Read more

Specific RNA splicing events associated with Alzheimer’s disease progression have been identified in a large-scale analysis of RNA from postmortem human brain tissue. Researchers at the Icahn School of Medicine at Mount Sinai and Columbia University presented a comprehensive genome-wide map of RNA splicing variation in the aging prefrontal cortex that will serve as a new… Read more

Evie Walker sits on Alison’s lap, playing a game she never grows tired of: turning her mum’s hand over and over, stroking and examining it. When she takes a break and looks around, it is with the open-mouthed look of curiosity and awe that you see in many infants. Evie’s vocabulary currently consists of a… Read more