(Medical Xpress)—Scientists have established a genetic mouse model for primary ovarian insufficiency (POI), a human condition in which women experience irregular menstrual cycles and reduced fertility, and early exposure ...
Aug 30, 2012
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(Medical Xpress) -- A protein essential for metabolism and recently associated with neurodegenerative diseases also occurs in several brain-specific forms. This discovery emerged in the course of a research project funded ...
Jul 23, 2012
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A team of scientists from the University of Missouri created a genetically modified mouse that mimics key features of Charcot-Marie-Tooth disease, an inherited neuromuscular disease affecting approximately 150,000 people ...
Apr 17, 2012
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The lab of Yongchao C. Ma, Ph.D., at Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago has discovered a fundamental biological mechanism that could lead to new treatments ...
Apr 5, 2024
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Scientists from Tokyo Metropolitan University have shown that 5-aminolevulinic acid (5-ALA) helps bypass deficiencies in Complex I (CI), the first in a series of protein complexes that transport electrons and help power the ...
Jul 17, 2023
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Researchers from Children's Hospital of Philadelphia (CHOP) developed two new zebrafish models for studying a specific genetic form of mitochondrial disease that represents the most common cause of Leigh syndrome. Using these ...
Feb 21, 2023
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Muscular dystrophy is a debilitating disease that causes progressive weakening and loss of muscles. Fukuyama congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is a ...
Dec 12, 2022
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Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper ...
Aug 18, 2022
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An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of the brain associated ...
May 10, 2022
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A large-scale study provides further evidence that being overweight causes depression and lowers wellbeing and indicates both social and physical factors may play a role in the effect.
Aug 9, 2021
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