Title : Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response - Qiao_2007_BMC.Neurosci_8_95 |
Author(s) : Qiao X , Lu JY , Hofmann SL |
Ref : BMC Neurosci , 8 :95 , 2007 |
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. |
PubMedSearch : Qiao_2007_BMC.Neurosci_8_95 |
PubMedID: 18021406 |
Gene_locus related to this paper: mouse-ppt |
Gene_locus | mouse-ppt |
Qiao X, Lu JY, Hofmann SL (2007)
Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response
BMC Neurosci
8 :95
Qiao X, Lu JY, Hofmann SL (2007)
BMC Neurosci
8 :95