Stay updated with breaking news from Deepa Rajan. Get real-time updates on events, politics, business, and more. Visit us for reliable news and exclusive interviews.
This week, The Pixies, Modest Mouse and Cat Power, The Baseball Project, "The Saint of Second Chances" movie, Backyard Renaissance Theatre's "August: Osage County," the U-T Fall Arts Preview 2023 and more.
RNA Metabolism Gene Mutation Linked to Rare Disease May 10, 2021 [Source: KTSDESIGN/SCIENCE PHOTO LIBRARY/Getty Images] Scientists have linked a protein complex, GEMIN5, that controls RNA metabolism in neurons to a rare disease for the first time. An international group led by researchers at UPMC Children’s Hospital of Pittsburgh found a mutation in this gene is associated with a neurological disorder marked by developmental delay and loss of coordination, or ataxia. GEMIN5 is one of the key building blocks of a protein complex that controls RNA metabolism in neurons. No mutations in thi...
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.
Date Time Mutations Cause Rare Genetic Disease in Children 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. “It...
Researchers find rare genetic disease caused by mutations in protein that controls RNA metabolism ANI | Updated: May 07, 2021 16:55 IST Pittsburgh [US], May 7 (ANI): 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 research was published in the scientific journal Nature Communications. The disorder, scientists found, is caused by mutations in a protein called GEMIN5--one ...