Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response |
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Authors: | Xingwen Qiao Jui-Yun Lu Sandra L Hofmann |
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Institution: | (1) Hamon Center for Therapeutic Oncology Research and the Department of Internal Medicine, University of Texas Southwestern Medical Center, 75390 Dallas, TX, USA |
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Abstract: | Background 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. |
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Keywords: | |
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