|
pubmed:abstractText |
The infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical degeneration with blindness and cognitive and motor dysfunction. The PPT1-deficient knockout mouse recapitulates the key features of the disorder, including seizures and death by 7-9 months of age. In the current study, we compared gene expression profiles of whole brain from PPT1 knockout and normal mice at 3, 5 and 8 months of age to identify temporal changes in molecular pathways implicated in disease pathogenesis.
|
|
pubmed:affiliation |
Hamon Center for Therapeutic Oncology Research and the Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. xingwen.qiao@utsouthwestern.edu
|
