{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["23(10)"],"submitter":["Zhang X"],"pubmed_abstract":["Infantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). Typical symptoms of this disease include progressive psychomotor developmental retardation, visual failure, seizures, and premature death. Here, we investigated seizure activity and relevant pathological changes in PPT1 knock-in mice (PPT1 KI). The behavior studies in this study demonstrated that PPT1 KI mice had no significant seizure activity until 7 months of age, and local field potentials also displayed epileptiform activity at the same age. The expression levels of Iba-1 and CD68 demonstrated, by Western blot analysis, the inflammatory cytokine TNF-α content measured with enzyme-linked immunoso"],"journal":["International journal of molecular sciences"],"pagination":["5586"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9144763"],"repository":["biostudies-literature"],"pubmed_title":["Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia."],"pmcid":["PMC9144763"],"pubmed_authors":["Wang M","Zhang X","Peng S","Tong J","Lu C","Feng B","Zhang Q"],"additional_accession":[]},"is_claimable":false,"name":"Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.","description":"Infantile neuronal ceroid lipofuscinosis (INCL), the most severe form of neuronal ceroid lipofuscinoses, is caused by mutations in the lysosomal enzyme palmitoyl protein thioesterase 1 (PPT1). Typical symptoms of this disease include progressive psychomotor developmental retardation, visual failure, seizures, and premature death. Here, we investigated seizure activity and relevant pathological changes in PPT1 knock-in mice (PPT1 KI). The behavior studies in this study demonstrated that PPT1 KI mice had no significant seizure activity until 7 months of age, and local field potentials also displayed epileptiform activity at the same age. The expression levels of Iba-1 and CD68 demonstrated, by Western blot analysis, the inflammatory cytokine TNF-α content measured with enzyme-linked immunoso","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 May","modification":"2025-04-26T07:31:47.203Z","creation":"2024-11-09T08:42:40.869Z"},"accession":"S-EPMC9144763","cross_references":{"pubmed":["35628400"],"doi":["10.3390/ijms23105586"]}}