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Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis
INTRODUCTION: Sialidosis is a neurosomatic, lysosomal storage disease (LSD) caused by mutations in the NEU1 gene, encoding the lysosomal sialidase NEU1. Deficient enzyme activity results in impaired processing/degradation of sialo-glycoproteins, and accumulation of oversialylated metabolites. Sialid...
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| 出版年: | Expert Opin Orphan Drugs |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4777310/ https://ncbi.nlm.nih.gov/pubmed/26949572 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2015.1025746 |
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