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A Murine Niemann-Pick C1 I1061T Knock-In Model Recapitulates the Pathological Features of the Most Prevalent Human Disease Allele
Niemann-Pick Type C1 (NPC1) disease is a rare neurovisceral, cholesterol–sphingolipid lysosomal storage disorder characterized by ataxia, motor impairment, progressive intellectual decline, and dementia. The most prevalent mutation, NPC1(I1061T), encodes a misfolded protein with a reduced half-life...
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| Publicado en: | J Neurosci |
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| Main Authors: | , , , , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Society for Neuroscience
2015
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4444535/ https://ncbi.nlm.nih.gov/pubmed/26019327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.4173-14.2015 |
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