News tagged with mutant protein

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: ...

Jan 30, 2014
popularity 4.3 / 5 (11) | comments 0 | with audio podcast

A trigger for muscular diseases

A University of Arizona doctoral candidate has shown for the first time that genetic mutations in the titin gene can cause skeletal muscle myopathy, a disease in which muscle fibers do not function properly, ...

Jan 27, 2014
popularity 5 / 5 (2) | comments 0 | with audio podcast

Exercise rescues mutated neural stem cells

CHARGE syndrome is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation ...

Jul 05, 2013
popularity 5 / 5 (2) | comments 1 | with audio podcast

Decoding Rett syndrome: New pieces to the puzzle

(Medical Xpress)—Rett Syndrome is a neurological disorder that affects about 1 in 10,000 girls. Back in 1992, University of Edinburgh researcher Adrian Bird discovered that the protein, MeCP2, plays a major ...

Jun 17, 2013
popularity 4 / 5 (3) | comments 0 | with audio podcast report