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翻译平衡受到质疑：在甘露糖基寡糖α-1,2-甘露糖苷酶先天性糖基化障碍（MAN1B1-CDG）患者中，双硫仑治疗期间糖基化未改变。

Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).

作者信息

Kemme Lisa, Grüneberg Marianne, Reunert Janine, Rust Stephan, Park Julien, Westermann Cordula, Wada Yoshinao, Schwartz Oliver, Marquardt Thorsten

机构信息

University Children's Hospital Münster Muenster Germany.

Department of Clinical Sciences, Neurosciences Umeå University Umeå Sweden.

出版信息

JIMD Rep. 2021 Mar 20;60(1):42-55. doi: 10.1002/jmd2.12213. eCollection 2021 Jul.

DOI:10.1002/jmd2.12213
PMID:34258140
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8260486/
Abstract

MAN1B1-CDG is a multisystem disorder caused by mutations in , encoding the endoplasmic reticulum mannosyl-oligosaccharide alpha-1,2-mannnosidase. A defect leads to dysfunction within the degradation of misfolded glycoproteins. We present two additional patients with MAN1B1-CDG and a resulting defect in endoplasmic reticulum-associated protein degradation. One patient (P2) is carrying the previously undescribed p.E663K mutation. A therapeutic trial in patient 1 (P1) using disulfiram with the rationale to generate an attenuation of translation and thus a balanced, restored ER glycoprotein synthesis failed. No improvement of the transferrin glycosylation profile was seen.

摘要

MAN1B1-CDG是一种多系统疾病，由编码内质网甘露糖寡糖α-1,2-甘露糖苷酶的基因突变引起。缺陷导致错误折叠糖蛋白降解功能障碍。我们报告另外两名患有MAN1B1-CDG且内质网相关蛋白降解存在缺陷的患者。一名患者（P2）携带此前未描述的p.E663K突变。对患者1（P1）使用双硫仑进行治疗试验，其原理是减少翻译从而平衡、恢复内质网糖蛋白合成，但未成功。转铁蛋白糖基化谱未见改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/dd4dad5015ee/JMD2-60-42-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/f99b31f127ee/JMD2-60-42-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/bff85d4c65ee/JMD2-60-42-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/c37d5e2617d9/JMD2-60-42-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/52a4b92e7ccd/JMD2-60-42-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/1aa897d1d986/JMD2-60-42-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/bc5015ab5509/JMD2-60-42-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/dd4dad5015ee/JMD2-60-42-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/f99b31f127ee/JMD2-60-42-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/bff85d4c65ee/JMD2-60-42-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/c37d5e2617d9/JMD2-60-42-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/52a4b92e7ccd/JMD2-60-42-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/1aa897d1d986/JMD2-60-42-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/bc5015ab5509/JMD2-60-42-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf30/8260486/dd4dad5015ee/JMD2-60-42-g005.jpg

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2
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Clin Chim Acta. 2019 May;492:102-113. doi: 10.1016/j.cca.2019.02.013. Epub 2019 Feb 15.
3
Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.
从干血斑卡片和毛细血管血样中分析转铁蛋白糖基化。
J Chromatogr B Analyt Technol Biomed Life Sci. 2019 Feb 1;1106-1107:64-70. doi: 10.1016/j.jchromb.2019.01.004. Epub 2019 Jan 7.
4
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability.罕见疾病的基因组筛查：新的突变和表型，突出 ALG14 是严重智力障碍的新病因。
Clin Genet. 2018 Dec;94(6):528-537. doi: 10.1111/cge.13448. Epub 2018 Oct 15.
5
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Eur J Med Genet. 2019 Feb;62(2):109-114. doi: 10.1016/j.ejmg.2018.06.011. Epub 2018 Jun 14.
6
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7
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Trends Genet. 2018 Jun;34(6):466-476. doi: 10.1016/j.tig.2018.03.002. Epub 2018 Mar 29.
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9
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