Researchers at the RIKEN Brain Science Institute in Japan have discovered how to reverse the abnormal axonal development characteristic of CFEOM3, a congenital disease that affects the muscles that control eye movements. ...
Jan 18, 2016
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In Parkinson's disease, the protein "alpha-synuclein" aggregates within neurons of patients and appears to propagate across interconnected areas of the brain. How this happens remains largely unknown. It has been proposed ...
Jan 5, 2016
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Scientists at The Scripps Research Institute (TSRI) have found evidence that a mutant protein responsible for most cases of cystic fibrosis is so busy "talking" to the wrong cellular neighbors that it cannot function normally ...
Nov 30, 2015
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University of Florida Health researchers have made a new discovery about Huntington's disease, showing that the gene that causes the fatal disorder makes an unexpected "cocktail" of mutant proteins that accumulate in the ...
Nov 19, 2015
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Scientists have unraveled how mutant molecules damage the nervous system of people with Charcot-Marie-Tooth (CMT) disease, a group of disorders that hinder people's ability to move and feel sensation in their hands and feet, ...
Oct 21, 2015
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Scientists from the RIKEN Brain Science Institute have shown that a mouse strain with a mutation that leads to dysfunction of mitochondria—the "powerhouses" that provide energy to cells—spontaneously undergo periodic ...
Oct 20, 2015
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(Medical Xpress)—An international team of researchers working at the Washington University School of Medicine in Missouri has identified several genes associated with specific metabolic pathways in a mammal biome, including ...
Researchers have determined how the most common gene mutation in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) disrupts normal cell function, providing insight likely to advance efforts to develop ...
Aug 26, 2015
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A gene mutation has been found to contribute to non-alcoholic fatty liver disease (NAFLD), a form of liver disease closely linked to obesity, in normal weight subjects. Carriers of the PNPLA3 mutant genotype were found to ...
Jul 22, 2015
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Practically everyone gets fatter as they get older, but some people can blame their genes for the extra padding. Researchers have shown that two different mutations in a gene called ankyrin-B cause cells to suck up glucose ...
Jul 13, 2015
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