BiotechMashup

Scientists have identified misfolding and other molecular anomalies in a key brain protein associated with autism spectrum disorders.

(University of California - San Diego) An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants.

(University of California - San Diego) A team of researchers, led by scientists at the University of California, San Diego, have identified a key player in the dramatic loss of neurons in mice and fly models, a discovery that could help illuminate the role of mitochondrial dysfunction in human neurodegenerative disorders, such as Parkinson's disease.

(University of California - San Diego) The first atlas of the surface of the human brain based upon genetic information has been produced by a national team of scientists, led by researchers at the University of California, San Diego School of Medicine and the VA San Diego Healthcare System. The work is published in the March 30 issue of the journal Science.

(University of California - San Diego) Three international teams of scientists, led by researchers at the University of California San Diego, University of Michigan and Stanford University, have published a trio of papers describing in unprecedented detail the structure and workings of G protein-coupled receptors (GPCRs), a large family of human proteins that are the target of one-third to one-half of modern drugs.

(University of California - San Diego) A novel strategy developed by autism researchers at the University of California, San Diego School of Medicine, called "The One-Year Well-Baby Check Up Approach," shows promise as a simple way for physicians to detect cases of autism syndrome disorder, language or developmental delays in babies at an early age.

(University of California - San Diego) An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies. Their findings, which may lead to new therapies for these diseases, will appear in the online edition of Nature Genetics on Aug. 9.

(University of California - San Diego) Using eye-tracking methods, researchers at the University of California, San Diego School of Medicine have shown that toddlers with autism spend significantly more time visually examining dynamic geometric patterns than they do looking at social images -- a viewing pattern not found in either typical or developmentally delayed toddlers.

(University of California - San Diego) Scientists at the University of California, San Diego School of Medicine and UC San Diego Moores Cancer Center, in collaboration with colleagues in Boston and South Korea, say they have identified a novel gene mutation that causes at least one form of glioblastoma, the most common type of malignant brain tumor.