Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola, Eija; Partanen, Sanna; Strömme, Petter; Haapanen, Aleksi; Haltia, Matti; Maehlen, Jan; Lehesjoki, Anna-Elina; Tyynelä, Jaana

Siintola, Eija; Partanen, Sanna; Strömme, Petter; Haapanen, Aleksi; Haltia, Matti; Maehlen, Jan; Lehesjoki, Anna-Elina; Tyynelä, Jaana.

Affiliation

Siintola E; Folkhälsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki Helsinki, Finland.

Brain ; 129(Pt 6): 1438-45, 2006 Jun.

Article in En | MEDLINE | ID: mdl-16670177

Subject(s)

Cathepsin D/deficiency; Mutation/genetics; Neuronal Ceroid-Lipofuscinoses/genetics; Animals; Base Sequence; Brain/metabolism; Brain/pathology; Cathepsin D/genetics; Cathepsin D/metabolism; Cells, Cultured; Cricetinae; DNA Mutational Analysis/methods; Female; Humans; Infant, Newborn; Male; Mutagenesis, Site-Directed/methods; Neuronal Ceroid-Lipofuscinoses/congenital; Neuronal Ceroid-Lipofuscinoses/metabolism; Neuronal Ceroid-Lipofuscinoses/pathology; Phenotype; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Cathepsin D / Mutation / Neuronal Ceroid-Lipofuscinoses Type of study: Prognostic_studies Limits: Animals / Female / Humans / Male / Newborn Language: En Journal: Brain Year: 2006 Document type: Article Affiliation country: Finland Country of publication: United kingdom

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