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Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration
Niemann-Pick C1 (NPC) disease, an autosomal recessive lipid trafficking disorder caused by loss-of-function mutations in the NPC1 gene, is characterized by progressive neurodegeneration resulting in cognitive impairment, ataxia and early death. Little is known about the cellular pathways leading to...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4787909/ https://ncbi.nlm.nih.gov/pubmed/26908626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw025 |
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