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Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3(Δex1-6) mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

Retinal degeneration and visual impairment are the first signs of juvenile neuronal ceroid lipofuscinosis caused by CLN3 mutations, followed by inevitable progression to blindness. We investigated retinal degeneration in Cln3(Δex1-6) null mice, revealing classic ‘fingerprint’ lysosomal storage in th...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Wavre-Shapton, Silène T., Calvi, Alessandra A., Turmaine, Mark, Seabra, Miguel C., Cutler, Daniel F., Futter, Clare E., Mitchison, Hannah M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654058/
https://ncbi.nlm.nih.gov/pubmed/26450516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv406
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