Ontology highlight
ABSTRACT:
SUBMITTER: Sleat DE
PROVIDER: S-EPMC2467442 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
Sleat David E DE El-Banna Mukarram M Sohar Istvan I Kim Kwi-Hye KH Dobrenis Kostantin K Walkley Steven U SU Lobel Peter P
Molecular genetics and metabolism 20080317 2
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a hereditary neurodegenerative disease of childhood that is caused by mutations in the gene (CLN2) encoding the lysosomal protease tripeptidyl-peptidase I (TPPI). LINCL is fatal and there is no treatment of demonstrated efficacy in affected children but preclinical studies with AAV-mediated gene therapy have demonstrated promise in a mouse model. Here, we have generated mouse CLN2-mutants that express different amounts of TPPI ac ...[more]