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Year Number of Results
2004 3
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39 results

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Page 1
Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts.
Budhraja R, Joshi N, Radenkovic S, Kozicz T, Morava E, Pandey A. Budhraja R, et al. Proteomics. 2024 Aug;24(15):e2400012. doi: 10.1002/pmic.202400012. Epub 2024 Mar 12. Proteomics. 2024. PMID: 38470198 Free PMC article.
Asparagine-linked glycosylation 1 protein is a beta-1,4-mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N-glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder t …
Asparagine-linked glycosylation 1 protein is a beta-1,4-mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the …
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.
Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA. Bengtson P, et al. J Inherit Metab Dis. 2016 Jan;39(1):107-14. doi: 10.1007/s10545-015-9884-y. Epub 2015 Sep 3. J Inherit Metab Dis. 2016. PMID: 26335155 Free PMC article.
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. ...This is th …
ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) wher …
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Barone R, Fiumara A, Jaeken J. Barone R, et al. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. ...Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with si …
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of protei …
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review.
Xue Y, Zhao Y, Wu B, Shu J, Yan D, Li D, Yu X, Cai C. Xue Y, et al. Mol Genet Genomic Med. 2023 Aug;11(8):e2197. doi: 10.1002/mgg3.2197. Epub 2023 May 19. Mol Genet Genomic Med. 2023. PMID: 37204045 Free PMC article. Review.
BACKGROUND: The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. ...CONCLUSIONS: The case reported herein adds to the mutations identified in ALG1-CDG and a review of this …
BACKGROUND: The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare aut …
Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.
Muffels IJJ, Budhraja R, Shah R, Radenkovic S, Morava E, Kozicz T. Muffels IJJ, et al. Mol Genet Metab. 2025 Sep-Oct;146(1-2):109195. doi: 10.1016/j.ymgme.2025.109195. Epub 2025 Jul 19. Mol Genet Metab. 2025. PMID: 40743674
BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a rapidly expanding group of inherited metabolic diseases caused by defects in glycosylation. ...RESULTS: We identified four glycoproteins with consistent differential glycosylation …
BACKGROUND: Congenital Disorders of Glycosylation (CDG) are a rapidly expanding group of inherited metabolic dis …
Deficient glycan extension and endoplasmic reticulum stresses in ALG3-CDG.
Daniel EJP, Edmondson AC, Argon Y, Alsharhan H, Lam C, Freeze HH, He M. Daniel EJP, et al. J Inherit Metab Dis. 2024 Jul;47(4):766-777. doi: 10.1002/jimd.12739. Epub 2024 Apr 10. J Inherit Metab Dis. 2024. PMID: 38597022 Free PMC article.
ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurological manifestations, transaminitis, and frequent infections. ...In addition, we show that N-linked Man3-4 glycans are increased in cellular gl …
ALG3-CDG is a rare congenital disorder of glycosylation (CDG) with a clinical phenotype that includes neurologic …
Chemo-enzymatic synthesis of the ALG1-CDG biomarker and evaluation of its immunogenicity.
Jia JX, Kalisa NY, Lu TT, Zhou Z, Gao XD, Wang N. Jia JX, et al. Bioorg Med Chem Lett. 2020 Dec 15;30(24):127614. doi: 10.1016/j.bmcl.2020.127614. Epub 2020 Oct 17. Bioorg Med Chem Lett. 2020. PMID: 33080352
Congenital disorders of glycosylation (CDG) are a growing group diseases that result from defects in genes involved in glycan biosynthesis pathways. One tetrasaccharide, i.e., Neu5Ac-alpha2, 6-Gal-beta1, 4-GlcNAc-beta1, 4-GlcNAc, was recently reported …
Congenital disorders of glycosylation (CDG) are a growing group diseases that result from defects in genes invol …
Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S. Quinlan A, et al. Am J Med Genet A. 2025 Feb;197(2):e63890. doi: 10.1002/ajmg.a.63890. Epub 2024 Sep 26. Am J Med Genet A. 2025. PMID: 39324476 Free PMC article.
In contrast, pathogenic variants in ALG1 in humans cause a form of congenital disorder of glycosylation. Here, we present a 15-year-old boy with a clinical presentation that raised concern for complex hereditary spastic paraplegia (HSP), with mo …
In contrast, pathogenic variants in ALG1 in humans cause a form of congenital disorder of glycosylation. …
Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I.
Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T. Kranz C, et al. Am J Hum Genet. 2004 Mar;74(3):545-51. doi: 10.1086/382493. Epub 2004 Feb 17. Am J Hum Genet. 2004. PMID: 14973782 Free PMC article.
This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik (congenital disorder of glycoslyation type Ik) is based on a defect of human mannosyltransferase I (MT-I [MIM 605907]), a …
This study describes the discovery of a new inherited disorder of glycosylation named "CDG-Ik." CDG-Ik …
39 results