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Article

Transcriptome assessment of the Pompe (<i>Gaa</i><sup><i>−/−</i></sup>) mouse spinal cord indicates widespread neuropathology

10 Sept 2016

Abstract excerpt

Pompe disease, caused by deficiency of acid alpha-glucosidase (GAA), leads to widespread glycogen accumulation and profound neuromuscular impairments. There has been controversy, however, regarding the role of central nervous system pathology in Pompe motor dysfunction. We hypothesized that absence of GAA protein causes progressive activation of neuropathological signaling, including pathways associated with cell...

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PMID: 27614205
DOI: 10.1152/physiolgenomics.00075.2016

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