Opening a window to understand the molecular basis of a hereditary ataxia, Dartmouth Medical School researchers have identified an enzyme activity that is inactivated in all reported mutant forms of a disease protein. The discovery may lead to therapies to treat the neurological disease. The study appears in the June 3, 2005 issue of the Journal of Biological Chemistry (JBC) as Paper of the Week, an honor conferred on approximately 1% of JBCs 6600 annual publications.
Dr. Charles BrennerMutations in the gene encoding Aprataxin are the second leading cause of an early onset hereditary ataxia termed ataxia-oculomotor apraxia 1. Early onset ataxias are progressive, neurological disorders, with the patients losing balance and motor coordination in their hands and legs, and suffering from other symptoms such as controlling ocular movements.
"As with many diseases for which genes were identified by positional cloning, one begins with insufficient information about the encoded protein that would allow one to formulate a disease hypothesis, let alone develop potential therapeutic strategies," said lead author Dr. Charles Brenner, associate professor of genetics and of biochemistry at Dartmouth Medical School.
Andy Nordhoff | EurekAlert!
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Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.
Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...
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Water molecules exist in two different forms with almost identical physical properties. For the first time, researchers have succeeded in separating the two forms to show that they can exhibit different chemical reactivities. These results were reported by researchers from the University of Basel and their colleagues in Hamburg in the scientific journal Nature Communications.
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