Retinal Pathology in a Canine Model of Late Infantile Neuronal Ceroid Lipofuscinosis

Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited disorder characterized by progressive vision loss. The disease results from mutations in the TPP1 (CLN2) gene. Studies were undertaken to characterize the effects of a TPP1 frameshift mutation on the retina in Dachshunds. A litter o...

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Veröffentlicht in:	Investigative ophthalmology & visual science 2008-06, Vol.49 (6), p.2686-2695
Hauptverfasser:	Katz, Martin L, Coates, Joan R, Cooper, Jocelyn J, O'Brien, Dennis P, Jeong, Manbok, Narfstrom, Kristina
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminopeptidases Animals Biological and medical sciences Ceroid - metabolism Dipeptidyl-Peptidases and Tripeptidyl-Peptidases Disease Models, Animal Dog Diseases - genetics Dog Diseases - pathology Dogs Electroretinography - veterinary Endopeptidases - genetics Endopeptidases - metabolism Eye and associated structures. Visual pathways and centers. Vision Female Frameshift Mutation Fundamental and applied biological sciences. Psychology Lipofuscin - metabolism Male Medical sciences Neuronal Ceroid-Lipofuscinoses - genetics Neuronal Ceroid-Lipofuscinoses - pathology Neuronal Ceroid-Lipofuscinoses - veterinary Ophthalmology Retina - metabolism Retina - pathology Retinal Diseases - genetics Retinal Diseases - pathology Retinal Diseases - veterinary Serine Proteases Vertebrates: nervous system and sense organs
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