Human Molecular Genetics

Preventing 'traffic jams' in brain cells

Imagine if you could open up your brain and look inside. What you would see is a network of nerve cells called neurons, each with its own internal highway system for transporting essential materials between ...

May 28, 2013
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Candidate drug provides benefit in SMA animal models

In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and im ...

Jun 04, 2013
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Startle disease: Further key gene variants discovered

Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic ...

May 30, 2013
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Early menopause in mice: A model of human POI

(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, ...

Aug 30, 2012
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Cells from skin create model of blinding eye disease

For the first time, Wisconsin researchers have taken skin from patients and, using induced pluripotent stem cell (iPSC) technology, turned them into a laboratory model for an inherited type of macular degeneration.

Nov 08, 2012
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Cancer drug prevents build-up of toxic brain protein

Researchers at Georgetown University Medical Center have used tiny doses of a leukemia drug to halt accumulation of toxic proteins linked to Parkinson's disease in the brains of mice. This finding provides the basis to plan ...

May 10, 2013
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