Journal article

Failure of autophagy–lysosomal pathways in rod photoreceptors causes the early retinal degeneration phenotype observed in Cln6 nclf mice

P von Eisenhart-Rothe, A Grubman, U Greferath, LJ Fothergill, AI Jobling, JA Phipps, AR White, EL Fletcher, KA Vessey

Investigative Ophthalmology and Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2018

DOI: 10.1167/iovs.18-24757

Abstract

PURPOSE. Vision loss caused by photoreceptor death represents one of the first symptoms in neuronal ceroid lipofuscinosis, a condition characterized by accumulation of intracellular waste. Cln6 nclf mice have a naturally occurring mutation in ceroid–lipofuscinosis neuronal (CLN) protein 6 and are a model of this disorder. In order to identify the effect intracellular waste (lipofuscin) accumulation plays in driving retinal degeneration, the time course of degeneration was carefully characterized functionally using the electroretinogram and structurally using histology. METHODS. Cln6 nclf and C57BL/6J, wild-type, mice were studied at postnatal day 18 (P18), P30, P60, P120, and P240, and retin..

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Keywords

Electroretinogram
Eye
Pigment Epithelium
Oxidative Stress
Rodent
Neurodegenerative
Mouse Model
Super-Resolution Microscopy
Mitochondrial Atp Synthase
3212 Ophthalmology and Optometry
Subunit-C
Batten Disease
Fundus Autofluorescence
Neuronal Ceroid Lipofuscinosis
2.1 Biological and Endogenous Factors
Ceroid-Lipofuscinosis Neuronal Protein 6
Ophthalmology
Science & Technology
Eye Disease and Disorders of Vision
Macular Degeneration
Batten-Disease
Rare Diseases
Neuronal Ceroid-Lipofuscinosis
Ncl
32 Biomedical and Clinical Sciences
Lysosome
Cln6
Life Sciences & Biomedicine
Neurosciences
Neurodegeneration
Photoreceptor
Pediatric Research Initiative
Compromised Autophagy
Brain Disorders