In a new study in mice, researchers have identified a key protein involved in the irregular brain cell activity seen in autism spectrum disorders and epilepsy. The protein, p53, is well-known in cancer biology as a tumor ...
Jul 17, 2018
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Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy that affects multiple organ systems. People with this condition develop progressive muscle wasting and weakness in their lower legs, hands, ...
Jun 26, 2018
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For more than 20 years, much of the leading research on Alzheimer's disease has been guided by the "amyloid hypothesis."
Jun 6, 2018
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Mucolipidosis IV debilitates afflicted children's nervous systems in their first year of life, steals their eyesight in their teens and takes their lives in their twenties, and so far, there is no therapy to fight it. Now, ...
May 29, 2018
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It all began with one young patient; a 7-year old boy who was born without a thymus, an important organ of the immune system, and without functional immune cells. The boy also presented with cardiac and skeletal defects, ...
May 22, 2018
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A new study by scientists in Australia and the US provides an explanation for why clinical trials of drugs targeting proteins in the brain that were thought to cause dementia and Alzheimer's have failed. The study has opened ...
May 2, 2018
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A research group at the Faculty of Science and Technology of the UPV/EHU-University of the Basque Country has managed to identify the changes in the proteins altered by the UBE3A enzyme, which is responsible for Angelman ...
Apr 20, 2018
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Glaucoma—the leading cause of vision loss worldwide—includes a heterogeneous group of disorders. Primary open-angle glaucoma (POAG) and exfoliation glaucoma (XFG) are linked to decreased outflow of aqueous humor, which ...
Apr 11, 2018
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Two distinctive handfuls of short molecules that regulate gene expression have been found in the eye fluid of patients with two distinct types of vision degenerating glaucoma.
Feb 26, 2018
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Stem cell researchers at UConn Health have reversed Prader-Willi syndrome in brain cells growing in the lab, findings they recently published in the Human Molecular Genetics.
Jan 25, 2018
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