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Literature summary for 3.4.23.5 extracted from

  • Kuronen, M.; Talvitie, M.; Lehesjoki, A.E.; Myllykangas, L.
    Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis (2009), Neurobiol. Dis., 36, 488-493.
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Drosophila melanogaster
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-
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Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
cathD
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Drosophila melanogaster

General Information

General Information Comment Organism
malfunction mutations in cathepsin D result in the most severe, congenital form of neuronal ceroid lipofuscinoses with progressive intracellular accumulation of autofluorescent storage material, modest neurodegeneration in the brain areas related to visual function, and a retinal degenerative phenotype Drosophila melanogaster