title: Developmental changes in the expression of neuronal ceroid lipofuscinoses-linked proteins.
abstract: Neuronal ceroid lipofuscinoses (NCL) form a distinct group of storage diseases where the normal development of the central nervous system is interrupted and neurons of the neocortex begin to degenerate. Mutations in genes encoding three lysosomal enzymes are the causes for three early-onset forms of NCLs: palmitoyl-protein thioesterase 1 (PPT1) is deficient in human infantile NCL, tripeptidyl peptidase 1 (TTP1) in late-infantile NCL, and cathepsin D in congenital ovine NCL. We wanted to compare the developmental expression profiles of these enzymes in rat brain. In conclusion, the PPT1 expression pattern differed from the two other lysosomal enzymes implicated in NCL diseases, thus suggesting a distinctive role for PPT1 in brain development.
authors.affiliation: Institute of Biomedicine, University of Helsinki, Finland. jaana.suopanki@helsinki.fi
authors.forename: J
authors.initials: J
authors.lastname: Suopanki
authors.forename: S
authors.initials: S
authors.lastname: Partanen
authors.forename: J
authors.initials: J
authors.lastname: Ezaki
authors.forename: M
authors.initials: M
authors.lastname: Baumann
authors.forename: E
authors.initials: E
authors.lastname: Kominami
authors.forename: J
authors.initials: J
authors.lastname: Tyynelä
mesh_terms: D000626:Aminopeptidases; D000818:Animals; D001483:Base Sequence; D002402:Cathepsin D / Q000235:genetics / Q000378:metabolism; D002490:Central Nervous System / Q000201:enzymology / Q000254:growth & development / Q000473:pathology; D017931:DNA Primers / Q000235:genetics; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases / Q000235:genetics / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D009154:Mutation; D009410:Nerve Degeneration; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology* / Q000235:genetics / Q000473:pathology; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D051381:Rats; D057057:Serine Proteases; D013869:Thiolester Hydrolases / Q000235:genetics / Q000378:metabolism; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D000091346:Tripeptidyl-Peptidase 1; D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D002402:Cathepsin D