Genetics

Team finds gene critical for development of brain motor center

(Medical Xpress)—In a report published today in Nature Communications, an Ottawa-led team of researchers describe the role of a specific gene, called Snf2h, in the development of the cerebellum. Snf2h is required for the ...

Diseases, Conditions, Syndromes

Vitamin B3 treatment for ataxia shows promise in first human trial

(Medical Xpress)—A form of vitamin B3 has shown early promise against Friedreich's ataxia, a debilitating degenerative disease with no treatment or cure, in the first human trial of the treatment involving UCL researchers.

Medical research

Friedreich's ataxia: An effective gene therapy in an animal model

The team led by Hélène Puccio, director of research for Inserm at the Institute of Genetics and Molecular and Cellular Biology in close collaboration with Patrick Aubourg's team has demonstrated, in the mice, the efficacy ...

Neuroscience

Aging brains need 'chaperone' proteins

(Medical Xpress)—The word "chaperone" refers to an adult who keeps teenagers from acting up at a dance or overnight trip. It also describes a type of protein that can guard the brain against its own troublemakers: misfolded ...

Genetics

Team identifies two genes that combine to cause rare syndrome

Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...

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