This project was prepared as part of a BioQUEST faculty development workshop entitled PEER Workshop: Using Bioinformatics in Biological Problem Solving at SCALE-IT, NIMBIOS in August 2009. The BioQUEST Curriculum Consortium is committed to the reform of undergraduate biology instruction through an emphasis on engaging students in realistic scientific practices. This approach is sometimes characterized as an inquiry driven approach and is captured in BioQUEST's three P's (problem-posing, problem-solving, and peer-persuasion). As part of this workshop groups of faculty were encouraged to initiate innovative curricular projects. We are sharing these works in progress in the hope that they will stimulate further exploration, collaboration and development. Please see the following links for additional information:

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Genetic disease and the human alpha-glucosidase gene
 
 
Authors          Audiences          Overview           Materials          Resources           Future Directions
 

 


Authors

 
   
 


Possible Audiences:

People with Pompe disease  

 
 


Brief Overview:

Pompe disease (type II glycogen storage disease) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to the accumulation of glycogen in the lysosomes primarily in cardiac and skeletal muscle.  

 
   
 


Resources and References:

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. PMID: 15585405 Glucosidase, alpha; acid [Homo sapiens] http://www.ncbi.nlm.nih.gov/protein/26251857?ordinalpos=1&itool=EntrezSystem2.PEntrez.Sequence.Sequence_ResultsPanel.Sequence_RVDocSum