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Chemical Therapies for Congenital Disorders of Glycosylation
被引:12
|作者:
Sosicka, Paulina
[1
]
Ng, Bobby G.
[1
]
Freeze, Hudson H.
[1
]
机构:
[1] Sanford Burnham Prebys Med Discovery Inst, Sanford Childrens Hlth Res Ctr, Human Genet Program, La Jolla, CA 92037 USA
基金:
美国国家卫生研究院;
关键词:
DEFICIENCY TYPE-II;
GALACTOSE SUPPLEMENTATION;
MANNOSE SUPPLEMENTATION;
FUCOSYL-GLYCOPROTEIN;
FUNCTIONAL-ANALYSIS;
SLC39A8;
DEFICIENCY;
DROSOPHILA MODEL;
MUTATIONS;
BIOSYNTHESIS;
DERIVATIVES;
D O I:
10.1021/acschembio.1c00601
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
Congenital disorders of glycosylation (CDG) are ultrarare, genetically and clinically heterogeneous metabolic disorders. Although the number of identified CDG is growing rapidly, there are few therapeutic options. Most treatments involve dietary supplementation with monosaccharides or other precursors. These approaches are relatively safe, but in many cases, the molecular and biochemical underpinnings are incomplete. Recent studies demonstrate that yeast, worm, fly, and zebrafish models of CDG are powerful tools in screening repurposed drugs, ushering a new avenue to search for novel therapeutic options. Here we present a perspective on compounds that are currently in use for CDG treatment or have a potential to be applied as therapeutics in the near future.
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页码:2962 / 2971
页数:10
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