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pubmed-article:18021406pubmed:abstractTextThe 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.lld:pubmed
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pubmed-article:18021406pubmed:articleTitleGene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.lld:pubmed
pubmed-article:18021406pubmed:affiliationHamon Center for Therapeutic Oncology Research and the Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. xingwen.qiao@utsouthwestern.edulld:pubmed
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