The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

Neuronal ceroid lipofuscinoses (NCLs) are recessively inherited neurodegenerative lysosomal storage disorders characterized by progressive motor and mental retardation, visual failure, and epileptic seizures. Finnish variant late infantile NCL (vLINCLFin) is caused by mutations in the CLN5 gene. We...

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Bibliographic Details
Main Authors: Ville Holmberg, Anu Jalanko, Juha Isosomppi, Anna-Liisa Fabritius, Leena Peltonen, Outi Kopra
Format: Article
Language:English
Published: Elsevier 2004-06-01
Series:Neurobiology of Disease
Subjects:
Neuronal ceroid lipofuscinosis
CLN5
Lysosomal storage disease
Neurodegeneration
Mouse
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996104000051

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http://www.sciencedirect.com/science/article/pii/S0969996104000051

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