期刊
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
卷 1792, 期 9, 页码 835-840出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.bbadis.2009.01.004
关键词
Glycosylation disorder; CDG; Phosphomannomutase2; Phosphomannose isomerase; Therapy; High throughput screening
资金
- National Institute of Diabetes, Digestive and Kidney Diseases [R01-DK55695]
- Rocket Williams Fund
- Sanford Children's Health Research Center at the Burnham Institute for Medical Research
- CDG Family Network Foundation
- Mason's Hope
Phosphomannomutase (PMM2, Mannose-6-P -> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and introduces perspectives emerging from the drawing boards. Two approaches aim to increase Mannose-l-P: small membrane permeable molecules that increase the availability or/and metabolic flux of precursors into the impaired glycosylation pathway; and, phosphomannomutase enhancement and/or replacement therapy. Glycosylation-deficient cell and animal models are needed to determine which individual or combined approaches improve glycosylation and may be suitable for preclinical evaluation. (C) 2009 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据