| Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme. | |
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MedLine Citation:
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PMID: 11589006 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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J Tyynelä; I Sohar; D E Sleat; R M Gin; R J Donnelly; M Baumann; M Haltia; P Lobel |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 5 Suppl A ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2001 |
Date Detail:
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Created Date: 2001-10-08 Completed Date: 2001-11-01 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 43-5 Citation Subset: IM |
Affiliation:
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Institute of Biomedicine, POB8, 00014 University of Helsinki, Finland. jaana.tyynela@helsinki.fi |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Cathepsin D / analysis, deficiency*, genetics Frontal Lobe / enzymology Lysosomes / enzymology Mutation, Missense Nerve Degeneration / congenital, enzymology Neuronal Ceroid-Lipofuscinoses / congenital, enzymology* Sheep |
| Grant Support | |
ID/Acronym/Agency:
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DK45992/DK/NIDDK NIH HHS; DK54317/DK/NIDDK NIH HHS; NS32424/NS/NINDS NIH HHS; NS37918/NS/NINDS NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.4.23.5/Cathepsin D |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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