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.
引用
收藏
页码:2962 / 2971
页数:10
相关论文
共 50 条
  • [1] Therapies and therapeutic approaches in Congenital Disorders of Glycosylation
    Thiel, Christian
    Koerner, Christian
    GLYCOCONJUGATE JOURNAL, 2013, 30 (01) : 77 - 84
  • [2] Nutritional Therapies in Congenital Disorders of Glycosylation (CDG)
    Witters, Peter
    Cassiman, David
    Morava, Eva
    NUTRIENTS, 2017, 9 (11)
  • [3] Therapies and therapeutic approaches in Congenital Disorders of Glycosylation
    Christian Thiel
    Christian Körner
    Glycoconjugate Journal, 2013, 30 : 77 - 84
  • [4] Congenital disorders of glycosylation
    Chang, Irene J.
    He, Miao
    Lam, Christina T.
    ANNALS OF TRANSLATIONAL MEDICINE, 2018, 6 (24)
  • [5] Congenital disorders of glycosylation
    Jaeken, J
    Matthijs, G
    ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2001, 2 : 129 - 151
  • [6] Congenital disorders of glycosylation
    Matthijs, G
    TRENDS IN BIOCHEMICAL SCIENCES, 2000, 25 (09) : 428 - 428
  • [7] CONGENITAL DISORDERS OF GLYCOSYLATION
    Scaglia, Fernando
    MOLECULAR GENETICS AND METABOLISM, 2010, 99 (03) : 197 - 197
  • [8] Congenital disorders of glycosylation
    Jaeken, Jaak
    YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS, 2010, 1214 : 190 - 198
  • [9] Congenital Disorders of Glycosylation
    Woods, Amanda G.
    Woods, Christopher W.
    Snow, Timothy M.
    ADVANCES IN NEONATAL CARE, 2012, 12 (02) : 90 - 95
  • [10] Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies
    Marquardt, T
    Denecke, J
    EUROPEAN JOURNAL OF PEDIATRICS, 2003, 162 (06) : 359 - 379