title: Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.
abstract: We recently showed that a form of neuronal ceroid lipofuscinosis (NCL) in white Swedish landrace sheep is caused by a missense mutation in the cathepsin D gene resulting in complete inactivation of the enzyme. Despite the lack of cathepsin D activity, the brains of the cathepsin D deficient sheep showed strongly increased staining for cathepsin D in immunohistochemistry. By Western blotting, a 5-10 fold increase in the level of cathepsin D was confirmed. These results indicate that the missense mutation in congenital NCL sheep results in the synthesis of an inactive yet stable cathepsin D.
authors.affiliation: Institute of Biomedicine, POB8, 00014 University of Helsinki, Finland. jaana.tyynela@helsinki.fi
authors.forename: J
authors.initials: J
authors.lastname: Tyynelä
authors.forename: I
authors.initials: I
authors.lastname: Sohar
authors.forename: D E
authors.initials: DE
authors.lastname: Sleat
authors.forename: R M
authors.initials: RM
authors.lastname: Gin
authors.forename: R J
authors.initials: RJ
authors.lastname: Donnelly
authors.forename: M
authors.initials: M
authors.lastname: Baumann
authors.forename: M
authors.initials: M
authors.lastname: Haltia
authors.forename: P
authors.initials: P
authors.lastname: Lobel
mesh_terms: D000818:Animals; D002402:Cathepsin D / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D005625:Frontal Lobe / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D020125:Mutation, Missense; D009410:Nerve Degeneration / Q000151:congenital / Q000201:enzymology; D009472:Neuronal Ceroid-Lipofuscinoses / Q000151:congenital / Q000201:enzymology*; D012756:Sheep
chemical_list: D002402:Cathepsin D