Rare genetic disease caused by mutations in protein that controls RNA metabolism
PITTSBURGH, May 7, 2021 - In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children's Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
The disorder, scientists found, is caused by mutations in a protein called GEMIN5--one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in GEMIN5 were previously linked to any genetic disease. ...








