Columbia University Medical Center researchers have shown that new, or "de novo," protein-altering mutations—genetic errors that are present in patients but not in their parents—play a role in more than 50 percent ...
Aug 7, 2011
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(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 role in the ...
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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Anyone who has ever gotten stuck in a traffic jam can attest to the disruption that it causes to your day. Now, researchers from Japan have found that an autism-associated mutation can cause a traffic jam of unfolded proteins ...
Jul 19, 2022
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The absence of one copy of a single gene in the brain causes a rare, as-yet-unnamed neurological disorder, according to new research that builds on decades of work by a University at Buffalo biochemist and his colleagues.
Nov 13, 2018
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An approved drug normally used to treat fungal infections could also do the job of a protein channel that is missing in the lungs of people with cystic fibrosis, operating as a prosthesis on the molecular scale, says new ...
Mar 13, 2019
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A University of Adelaide analysis of genetic mutations which cause early-onset Alzheimer's disease suggests a new focus for research into the causes of the disease.
Jun 27, 2016
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A new study led by researchers at the University of California, Berkeley, represents a major advance in the understanding of the molecular mechanisms behind aging while providing new hope for the development of targeted treatments ...
Jan 31, 2013
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(Medical Xpress)—We've done a number of articles recently about some amazing individuals developing personalized treatments to their own currently uncurable disease. Whether it is a rare orphan disease like Sanfilippo Syndrome ...
Researchers identify an underlying molecular process that causes a genetic form of non-syndromic deafness in a new study that also suggests affected families may be at risk of damage to other organs.
Aug 27, 2013
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