Article
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Molecular genetics and metabolism - 1 Jul 2012
Palermo A T, Palmer R E, So K S, Oba-Shinjo S M, Zhang M, Richards B, Madhiwalla S T, Finn P F, Hasegawa A, Ciociola K M, Pescatori M, McVie-Wylie A J, Mattaliano R J, Madden S L, Marie S K N, Klinger K W, Pomponio R J
Abstract excerpt
Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we used microarrays to examine gene expression from the muscle of two cohorts of infantile-onset Pompe patients to identify transcriptional differences that may contribute to the disease phenotype. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.