Defects in the retina of Niemann-pick type C 1 mutant mice

BACKGROUND: Niemann-Pick type C1 (NPC1) disease is an inherited lysosomal storage disease caused by mutation of the Npc1 gene, resulting in a progressive accumulation of unesterified cholesterol and glycolipids in lysosomes of multiple tissues and leading to neurodegeneration and other disease. In N...

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Pubblicato in:BMC Neurosci
Autori principali: Yan, Xin, Ma, Lucy, Hovakimyan, Marina, Lukas, Jan, Wree, Andreas, Frank, Marcus, Guthoff, Rudolf, Rolfs, Arndt, Witt, Martin, Luo, Jiankai
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267119/
https://ncbi.nlm.nih.gov/pubmed/25472750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12868-014-0126-2
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