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Latest Walker-Warburg Syndrome Stories

2013-08-09 09:43:14

Study identifies 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. However, for a group of muscular dystrophies known collectively as congenital muscular dystrophies (CMDs), the sequence of the protein that is...

2012-01-09 19:10:35

Study reveals function of glycosylating enzyme involved in muscular dystrophy, brain development and infection by arenaviruses such as Lassa fever; ability to assay enzyme activity could help screen potential muscular dystrophy therapies 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...

2011-03-10 13:33:28

Mutation in important muscle protein causes muscle disease and cognitive impairment A strong international collaboration and a single patient with mild muscle disease and severe cognitive impairment have allowed University of Iowa researchers to identify a new gene mutation that causes muscular dystrophy. Furthermore, by engineering the human gene mutation into a mouse, the researchers, led by Kevin Campbell, Ph.D., professor and head of molecular physiology and biophysics at the UI Carver...

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2009-07-23 14:00:00

A new study by scientists at the University of Iowa shows why muscle membranes don't rupture when healthy people exercise.The findings shed light on a mechanism that appears to protect cells from mechanical stress. The study, which appears online July 20-24 in Proceedings of the National Academy of Sciences (PNAS) Early Edition, also helps explain why muscle damage is so severe when this mechanism is disrupted, which occurs in certain congenital and limb-girdle muscular...


Word of the Day
omadhaun
  • A fool; a simpleton: a term of abuse common in Ireland and to a less extent in the Gaelic-speaking parts of Scotland.
This word is partly Irish in origin.