Genetics

Spontaneous mutations in key brain gene are a cause of autism

Spontaneous mutations in the brain gene TBR1 disrupt the function of the encoded protein in children with severe autism. In addition, there is a direct link between TBR1 and FOXP2, a well-known language-related protein. These ...

Medical research

Using artificial RNA editing to restore genetic code

Various genetic diseases caused by point mutations have no established therapeutic approaches. Prof. Tsukahara and colleagues (Japan Advanced Institute of Science and Technology) are studying a therapeutic method using artificial ...

Diseases, Conditions, Syndromes

Treatment hope for Duchenne muscular dystrophy

An international team led by the University of Melbourne Australia, has found that increasing a specific protein in muscles could help treat Duchenne muscular dystrophy (DMD), a severe and progressive muscle wasting disease ...

Genetics

Unravelling the genetic mystery behind mitochondrial disease

Researchers from the Monash Biomedicine Discovery Institute in Melbourne have identified two new genes linked to a major cause of mitochondrial disease. Their research opens the way for better genetic diagnosis of the disease ...

Neuroscience

When nerve meets muscle, biglycan seals the deal

A protein that has shown early promise in preventing the loss of muscle function in mouse models of Duchenne muscular dystrophy, has been found in a new study to be a key player in the process of joining nerves to muscles.

Neuroscience

Drug reverses aging-associated changes in brain cells

Drugs that affect the levels of an important brain protein involved in learning and memory reverse cellular changes in the brain seen during aging, according to an animal study in the December 7 issue of The Journal of Neuroscience. ...

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