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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...
Guardat en:
| Publicat a: | Hum Mol Genet |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2016
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| Matèries: | |
| Accés en línia: | 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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