CDG or not CDG.
作者信息
Freeze Hudson H, Jaeken Jaak, Matthijs Gert
机构信息
Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA.
Center of Metabolic Diseases, KU Leuven, Leuven, Belgium.
出版信息
J Inherit Metab Dis. 2022 May;45(3):383-385. doi: 10.1002/jimd.12498. Epub 2022 Apr 1.
Abstract
摘要
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CDG or not CDG.是先天性糖基化障碍还是不是先天性糖基化障碍。
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Chemical Therapies for Congenital Disorders of Glycosylation.先天性糖基化障碍的化学治疗。
ACS Chem Biol. 2022 Nov 18;17(11):2962-2971. doi: 10.1021/acschembio.1c00601. Epub 2021 Nov 17.
2
Small RNAs are modified with N-glycans and displayed on the surface of living cells.小分子 RNA 经过 N-糖基化修饰并展示在活细胞表面。
Cell. 2021 Jun 10;184(12):3109-3124.e22. doi: 10.1016/j.cell.2021.04.023. Epub 2021 May 17.
3
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.SLC37A4 中的突变导致一种显性遗传的糖基化先天性疾病，其特征为肝功能障碍。
Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7.
4
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.ALG13 伴 X 连锁智力障碍：新变异体、糖基化分析和扩展表型。
J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26.
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A dyadic approach to the delineation of diagnostic entities in clinical genomics.临床基因组学中诊断实体划分的对偶方法。
Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013.
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Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.V-ATPase 组装因子 VMA21 突变导致伴有自噬性肝病的先天性糖基化障碍。
Hepatology. 2020 Dec;72(6):1968-1986. doi: 10.1002/hep.31218.
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Mutations in lead to a glycosylation disorder with a variable phenotype.突变导致糖基化紊乱，表现型多样。
Proc Natl Acad Sci U S A. 2019 May 14;116(20):9865-9870. doi: 10.1073/pnas.1817815116. Epub 2019 Apr 29.
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Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.
9
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.一个反复出现的新的杂合 COG4 取代导致 Saul-Wilson 综合征，破坏囊泡运输，并改变蛋白聚糖糖基化。
Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.
10
CDG nomenclature: time for a change!先天性糖基化障碍命名法：是时候改变了！
Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi: 10.1016/j.bbadis.2009.08.005.
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