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157 results

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Page 1
ALG1-CDG: A Patient with a Mild Phenotype and Literature Review.
Öncül Ü, Kose E, Eminoğlu FT. Öncül Ü, et al. Mol Syndromol. 2022 Feb;13(1):69-74. doi: 10.1159/000517797. Epub 2021 Sep 21. Mol Syndromol. 2022. PMID: 35221878 Free PMC article.
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. ...
ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient
ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Front Genet. 2021 Sep 9;12:744884. doi: 10.3389/fgene.2021.744884. eCollection 2021. Front Genet. 2021. PMID: 34567092 Free PMC article.
The identified complex alleles were NM_019109.5(ALG1): c.[208 + 16_208 + 19dup; 208 + 25G > T] and NM_019109.5(ALG1): c.[208 + 16_208 + 19dup; 1312C > T]. ...This is the first report of an ALG1-CDG patient from Latin America....
The identified complex alleles were NM_019109.5(ALG1): c.[208 + 16_208 + 19dup; 208 + 25G > T] and NM_019109.5(ALG1): c.[20 …
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. Due to the deficiency of beta1,4 mannosyltransferase caused by pathogenic variants in ALG1 gene, the assembly and processing of glycans …
BACKGROUND: The congenital disorder of glycosylation associated with ALG1 (ALG1-CDG) is a rare autosomal recessive disease. Du …
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. ...We identified and characterized 39 previously unreported cases of ALG1-CDG from 32 families and add 26 new mutations. Pathogenicity of each mutation was confirmed based on its inabil
ALG1 mutations cause a rare autosomal recessive disorder termed ALG1-CDG. ...We identified and characterized 39 previously unr
ALG1-CDG: a new case with early fatal outcome.
Rohlfing AK, Rust S, Reunert J, Tirre M, Du Chesne I, Wemhoff S, Meinhardt F, Hartmann H, Das AM, Marquardt T. Rohlfing AK, et al. Gene. 2014 Jan 25;534(2):345-51. doi: 10.1016/j.gene.2013.10.013. Epub 2013 Oct 21. Gene. 2014. PMID: 24157261
The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as ALG1-CDG (CDG-Ik). The phenotypical, molecular and biochemical analysis of a severely affected ALG1-CDG patient is the focus of th …
The deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase, encoded by the human ortholog of ALG1 from yeast, is known as A
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
., Neu5Ac-alpha2, 6-Gal-beta1, 4-GlcNAc-beta1, 4-GlcNAc, was recently reported as the biomarker of ALG1-CDG, the disease caused by ALG1 deficiency. To develop a novel diagnostic method for ALG1-CDG, chemo-enzymatic synthesis of the tetrasaccharide biomarker l …
., Neu5Ac-alpha2, 6-Gal-beta1, 4-GlcNAc-beta1, 4-GlcNAc, was recently reported as the biomarker of ALG1-CDG, the disease caused by …
Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele.
González-Domínguez CA, Fiesco-Roa MO, Gómez-Carmona S, Kleinert-Altamirano API, He M, Daniel EJP, Raymond KM, Abreu-González M, Manrique-Hernández S, González-Jaimes A, Salinas-Marín R, Molina-Garay C, Carrillo-Sánchez K, Flores-Lagunes LL, Jiménez-Olivares M, Muñoz-Rivas A, Cruz-Muñoz ME, Ruíz-García M, Freeze HH, Mora-Montes HM, Alaez-Verson C, Martínez-Duncker I. González-Domínguez CA, et al. Front Genet. 2021 Sep 30;12:777731. doi: 10.3389/fgene.2021.777731. eCollection 2021. Front Genet. 2021. PMID: 34659374 Free PMC article.
Quantitative study of yeast Alg1 beta-1, 4 mannosyltransferase activity, a key enzyme involved in protein N-glycosylation.
Li ST, Wang N, Xu S, Yin J, Nakanishi H, Dean N, Gao XD. Li ST, et al. Biochim Biophys Acta Gen Subj. 2017 Jan;1861(1 Pt A):2934-2941. doi: 10.1016/j.bbagen.2016.09.023. Epub 2016 Sep 23. Biochim Biophys Acta Gen Subj. 2017. PMID: 27670784
ALG1 is essential for yeast viability, and in humans mutations in the ALG1 cause congenital disorders of glycosylation known as ALG1-CDG. ...Furthermore, the effect of ALG1-CDG mutations on enzyme activity was also measured. GENERAL SIGNIFICANCE: This
ALG1 is essential for yeast viability, and in humans mutations in the ALG1 cause congenital disorders of glycosylation known a
Nascent Proteome and Glycoproteome Reveal the Inhibition Role of ALG1 in Hepatocellular Carcinoma Cell Migration.
Cao X, Shao Y, Meng P, Cao Z, Yan G, Yao J, Zhou X, Liu C, Zhang L, Shu H, Lu H. Cao X, et al. Phenomics. 2022 May 14;2(4):230-241. doi: 10.1007/s43657-022-00050-5. eCollection 2022 Aug. Phenomics. 2022. PMID: 36939752 Free PMC article.
However, whether ALG1 plays a role in human HCC remains unknown. In this study, the expression profile of ALG1 in tumorous and corresponding adjacent non-tumor tissues was analyzed. ...Functional studies confirmed that knockdown of ALG1 reduced cell adhesion …
However, whether ALG1 plays a role in human HCC remains unknown. In this study, the expression profile of ALG1 in tumorous and …
157 results