One in five very low-birth-weight, premature infants suffers a life-threatening brain hemorrhage, often originating in a vital region known as the germinal matrix. In a recently published study in the journal Developmental ...
Mar 13, 2018
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An assay designed to measure normal and abnormal forms of the huntingtin protein – the mutated form of which causes Huntington's disease (HD) – was successful in detecting levels of the mutant protein in a large multicenter ...
Aug 29, 2013
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Researchers have generated induced pluripotent stem cell (iPSC)-derived kidney organoids to model Alport syndrome caused by a mutation in the COL4A5 gene and have demonstrated the utility of a chemical chaperone to rescue ...
Oct 18, 2023
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(Medical Xpress)—As anyone familiar with the X-Men knows, mutants can be either very good or very bad—or somewhere in between. The same appears true within cancer cells, which may harbor hundreds of mutations that set ...
Dec 27, 2012
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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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As part of the long effort to improve treatment of tuberculosis (TB), microbiologists led by Yasu Morita at the University of Massachusetts Amherst report that they have for the first time characterized a protein involved ...
Oct 23, 2017
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Researchers from Eindhoven University of Technology and McGill University in Montreal (Canada) have taken an important step towards developing a drug against cystic fibrosis. In people suffering from this illness the CFTR ...
Feb 18, 2016
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