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Understanding human glycosylation disorders: biochemistry leads the charge.理解人类糖基化紊乱：生物化学引领研究。
J Biol Chem. 2013 Mar 8;288(10):6936-45. doi: 10.1074/jbc.R112.429274. Epub 2013 Jan 17.
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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.基于靶向聚合酶链反应的富集和下一代测序在糖基化先天性疾病诊断检测中的应用。
Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2.
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Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.I型和II型糖基化先天性疾病的表型和基因型谱。
Mol Genet Metab. 2017 Mar;120(3):235-242. doi: 10.1016/j.ymgme.2016.12.014. Epub 2017 Jan 3.
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Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.全外显子组测序在具有神经和胃肠道表现的罕见遗传性代谢疾病中的应用：一种模拟糖原贮积病的糖基化先天性疾病。
Clin Chim Acta. 2015 Apr 15;444:50-3. doi: 10.1016/j.cca.2015.02.008. Epub 2015 Feb 11.
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Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.3型类固醇5α-还原酶先天性糖基化障碍与早发性视网膜营养不良的关联。
JAMA Ophthalmol. 2017 Apr 1;135(4):339-347. doi: 10.1001/jamaophthalmol.2017.0046.
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ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.ALG3-CDG：中国同胞兄妹的致死表型和新型变异。
J Hum Genet. 2020 Dec;65(12):1129-1134. doi: 10.1038/s10038-020-0798-7. Epub 2020 Jul 12.
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Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.ALG12-先天性糖基化障碍（ALG12-CDG）中的复杂表型：病例系列和文献复习。
Mol Genet Metab. 2019 Dec;128(4):409-414. doi: 10.1016/j.ymgme.2019.08.007. Epub 2019 Aug 26.
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ALG11-CDG syndrome: Expanding the phenotype.ALG11-CDG 综合征：扩展表型。
Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.通过全外显子组测序鉴定 I 型糖基化先天性疾病的相关基因。
Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5.
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Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.先天性糖基化障碍（CDG）的分子诊断检测：单基因检测和下一代测序 panel 检测的检出率。
Mol Genet Metab. 2013 Sep-Oct;110(1-2):78-85. doi: 10.1016/j.ymgme.2013.05.012. Epub 2013 May 28.
引用本文的文献
1
High-density lectin microarray uncovers stage-specific plasma glycoprofiling signatures for non-muscle-invasive and muscle-invasive bladder cancer.高密度凝集素微阵列揭示非肌层浸润性和肌层浸润性膀胱癌的阶段特异性血浆糖蛋白谱特征。
Int Urol Nephrol. 2025 Aug 10. doi: 10.1007/s11255-025-04708-7.
2
Natural SEL1L variants rescue a model of NGLY1 deficiency and modify ERAD function and proteasome sensitivity.天然SEL1L变体挽救了NGLY1缺陷模型，并改变了内质网相关蛋白降解（ERAD）功能和蛋白酶体敏感性。
PLoS Genet. 2025 Aug 7;21(8):e1011823. doi: 10.1371/journal.pgen.1011823. eCollection 2025 Aug.
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Sweet Aging: Glycocalyx and Galectins in CNS Aging and Neurodegenerative Disorders.甜蜜的衰老：中枢神经系统衰老和神经退行性疾病中的糖萼与半乳糖凝集素
Int J Mol Sci. 2025 May 14;26(10):4699. doi: 10.3390/ijms26104699.
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A novel glycogene-related signature for prognostic prediction and immune microenvironment assessment in kidney renal clear cell carcinoma.一种用于肾透明细胞癌预后预测和免疫微环境评估的新型糖原相关特征。
Ann Med. 2025 Dec;57(1):2495762. doi: 10.1080/07853890.2025.2495762. Epub 2025 May 7.
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Sensitive Fluorescence Quantitation and Efficient Free Radical Characterization of -Glycans via LC-FLR-HRMS/MS with a Novel Fluorescent Free Radical Tag.通过带有新型荧光自由基标签的液相色谱-荧光检测-高分辨质谱联用技术对糖链进行灵敏的荧光定量和高效的自由基表征
Anal Chem. 2025 Apr 8;97(13):7118-7127. doi: 10.1021/acs.analchem.4c06294. Epub 2025 Mar 25.
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Mechanisms of uropathogenic mucosal association in the gastrointestinal tract.尿路致病性细菌在胃肠道中黏膜黏附的机制
Sci Adv. 2025 Jan 31;11(5):eadp7066. doi: 10.1126/sciadv.adp7066.
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Boltzmann Model Predicts Glycan Structures from Lectin Binding.玻尔兹曼模型从凝集素结合预测聚糖结构。
Anal Chem. 2024 May 28;96(21):8332-8341. doi: 10.1021/acs.analchem.3c04992. Epub 2024 May 8.
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Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG.Rft1的分子特征，一种与糖基化先天性疾病RFT1-CDG相关的内质网膜蛋白。
bioRxiv. 2024 Jun 22:2024.04.03.587922. doi: 10.1101/2024.04.03.587922.
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Different glycosylation profiles of cystatin F alter the cytotoxic potential of natural killer cells.胱抑素 F 的不同糖基化谱改变了自然杀伤细胞的细胞毒性潜力。
Cell Mol Life Sci. 2023 Dec 13;81(1):8. doi: 10.1007/s00018-023-05041-x.
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NGLY1 mutations cause protein aggregation in human neurons.NGLY1 突变导致人类神经元中的蛋白质聚集。
Cell Rep. 2023 Dec 26;42(12):113466. doi: 10.1016/j.celrep.2023.113466. Epub 2023 Nov 30.
本文引用的文献
1
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.DPM2-CDG：一种伴有严重癫痫的肌肉营养不良症- dystroglycanopathy 综合征。
Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.
2
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.新生儿重症监护病房中用于遗传疾病诊断的快速全基因组测序。
Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041.
3
Diagnostic exome sequencing in persons with severe intellectual disability.对严重智力障碍者进行外显子组诊断测序。
N Engl J Med. 2012 Nov 15;367(20):1921-9. doi: 10.1056/NEJMoa1206524. Epub 2012 Oct 3.
4
Diagnostic exome sequencing--are we there yet?诊断性外显子组测序——我们做到了吗？
N Engl J Med. 2012 Nov 15;367(20):1951-3. doi: 10.1056/NEJMe1211659. Epub 2012 Oct 3.
5
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.用于鉴定新型 CDG 的纯合子定位和外显子测序方法。
Glycoconj J. 2013 Jan;30(1):67-76. doi: 10.1007/s10719-012-9445-7. Epub 2012 Sep 15.
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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.一种新型的非中枢神经系统受累的糖基化紊乱，由磷酸葡萄糖变位酶 1 基因突变引起。
J Inherit Metab Dis. 2013 May;36(3):535-42. doi: 10.1007/s10545-012-9525-7. Epub 2012 Sep 14.
7
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.外显子组测序和功能验证在斑马鱼中发现 GTDC2 突变是 Walker-Warburg 综合征的一个原因。
Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009.
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A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.PMM2-CDG 的斑马鱼模型揭示了神经发生的改变和 N 连接糖基化缺陷的底物积累机制。
Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411. Epub 2012 Sep 5.
9
Unfolded protein response.未折叠蛋白反应
Curr Biol. 2012 Aug 21;22(16):R622-6. doi: 10.1016/j.cub.2012.07.004.
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A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.磷酸甘露糖异构酶缺乏症所致先天性糖基化障碍的斑马鱼模型揭示了早期进行补救性甘露糖补充的机会。
Dis Model Mech. 2013 Jan;6(1):95-105. doi: 10.1242/dmm.010116. Epub 2012 Aug 16.
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