Article
Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis.
Neurobiology of disease - 1 Dec 2009
Kuronen Mervi, Talvitie Minnamari, Lehesjoki Anna-Elina, Myllykangas Liisa
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCLs) are pediatric, neurodegenerative, lysosomal storage disorders. Mutations in cathepsin D result in the most severe, congenital form of NCLs. We have previously generated a cathepsin D deficient Drosophila model, which exhibits the key features of NCLs: progres...
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