Walker Warburg Syndrome News and Research

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Study: 3 enzymes required for building sugar superstructure involved in muscular dystrophies

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms.

9 Aug 2013

Researchers uncover exact function of LARGE enzyme linked with MD

Researchers at the University of Iowa have worked out the exact function of an enzyme that is critical for normal muscle structure and is involved in several muscular dystrophies. The findings, which were published Jan. 6 in the journal Science,, could be used to develop rapid, large-scale testing of potential muscular dystrophy therapies.

10 Jan 2012

Sticky protein protects cells from mechanical stress

A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.

26 Jul 2009

Research may help treat muscular dystrophies and other muscle diseases caused by glycosylation defects

Expressing high levels of a sugar-adding protein known as LARGE in mice that lack the protein can prevent muscular dystrophy in these animals, according to studies by researchers at the University of Iowa Roy J. and Lucille A. Carver College of Medicine.

7 Jun 2004