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Specific saposin C deficiency: CNS impairment and acid β-glucosidase effects in the mouse
Saposins A, B, C and D are derived from a common precursor, prosaposin (psap). The few patients with saposin C deficiency develop a Gaucher disease-like central nervous system (CNS) phenotype attributed to diminished glucosylceramide (GC) cleavage activity by acid β-glucosidase (GCase). The in vivo...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2010
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2807372/ https://ncbi.nlm.nih.gov/pubmed/20015957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp531 |
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