Article
A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.
The EMBO journal - 15 Jun 2000
Tyynelä J, Sohar I, Sleat D E, Gin R M, Donnelly R J, Baumann M, Haltia M, Lobel P
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived organelles in a variety of cell types, but neurons in the central nervous system appear to be selectively affected and undergo progressive death....
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