A mutation in a newly discovered small protein is connected to a significant increase in the risk for Alzheimer's disease, expanding the known gene targets for the disease and presenting a new potential avenue for treatment, ...
Sep 20, 2022
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893
A breakthrough study, led by researchers from the University of California, Irvine, results in the restoration of retinal and visual functions of mice models suffering from inherited retinal disease.
Oct 19, 2020
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443
Proteins, long polymers comprised of smaller constituents known as amino acids, play a crucial role in the functioning of the human body. Over the course of a human's life, these "strings" of proteins fold into unique 3D ...
p53 is one of the most important proteins in cancer biology. Often referred to as a "guardian of the genome," p53 becomes activated in response to various cellular stressors like DNA damage. Its activation induces different ...
Jul 12, 2022
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21
A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain—which causes this newly discovered ...
Oct 2, 2020
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211
Scientists at Washington University School of Medicine in St. Louis have detailed the structure of a molecule that has been implicated in Alzheimer's disease. Knowing the shape of the molecule—and how that shape may be ...
Dec 20, 2016
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1007
A new study could help to answer an important riddle in our understanding of genetics: why research to look for the genetic causes of common diseases has failed to explain more than a fraction of the heritable risk of developing ...
Feb 13, 2014
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0
St. Jude Children's Research Hospital scientists have demonstrated in mouse studies that the neurological disease spinal bulbar muscular atrophy (SBMA) can be successfully treated with drugs. The finding paves the way for ...
Mar 15, 2018
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411
Using a genetic screening platform developed by a UT Southwestern Nobel Laureate, scientists with the Center for the Genetics of Host Defense at UT Southwestern Medical Center have identified genetic mutations that contribute ...
Sep 9, 2022
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1039
Mutations in a key autoimmunity-associated gene are surprisingly common and are responsible for a previously unknown form of a rare autoimmune disorder called APS-1, according to a study published on June 16 in the journal ...
Jun 16, 2015
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