| Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients. | Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
Jacob M, Masood A, Abdel Rahman AM., Free PMC Article | 02/16/2023 |
| PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression. | PGM3 regulates beta-catenin activity to promote colorectal cancer cell progression.
Zhang N, Liu S, Xu J, Ning T, Xie S, Min L, Zhu S, Zhang S, Zhu S., Free PMC Article | 10/15/2022 |
| Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. | Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer.
Lee H, Cai F, Kelekar N, Velupally NK, Kim J., Free PMC Article | 03/5/2022 |
| Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions. | Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.
Ittiwut C, Manuyakorn W, Tongkobpetch S, Benjaponpitak S, Fisher MR, Milner JD, Lyons JJ, Suphapeetiporn K, Shotelersuk V. | 02/13/2021 |
| Deficiency of phosphoglucomutase 3 (PGM3) is an autosomal recessive disorder of N- and O-glycosylation. | Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.
Jaeken J, Lefeber DJ, Matthijs G., Free PMC Article | 07/25/2020 |
| our findings demonstrate that defective glycosylation in PGM3-deficient patients results in reduced expression of unglycosylated gp130 protein and consequently, impaired gp130-dependent STAT3 phosphorylation. | Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients.
Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, Ben-Mustapha I, Barbouche MR. | 05/2/2020 |
| Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. | A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM. | 04/28/2018 |
| study reports the first founder mutation in PGM3 gene (p.Glu340del) in twelve Tunisian PGM3 deficient patients belonging to three consanguineous families originating from a rural district in west central Tunisia | A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.
Ben-Khemis L, Mekki N, Ben-Mustapha I, Rouault K, Mellouli F, Khemiri M, Bejaoui M, Essaddam L, Ben-Becher S, Boughamoura L, Hassayoun S, Ben-Ali M, Barbouche MR. | 01/20/2018 |
| PGM3 mutation identified in a patient with hyper IgE syndrome results in lack of glycosylation at Asn264 and altered glycosylation profile. | Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation.
Wu G, Hitchen PG, Panico M, North SJ, Barbouche MR, Binet D, Morris HR, Dell A, Haslam SM., Free PMC Article | 12/9/2017 |
| Data indicate the effect of the phosphoglucomutase 3 (PGM3) mutation for four immunodeficient siblings in a Swedish family. | Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI., Free PMC Article | 03/19/2016 |
| define PGM3-CDG as a treatable immunodeficiency, document the power of whole-exome sequencing in gene discoveries for rare disorders, and illustrate the utility of genomic analyses in studying combined and variable phenotypes | PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR, Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC., Free PMC Article | 08/30/2014 |
| Impairment of PGM3 function leads to a novel primary (inborn) error of development and immunity because biallelic hypomorphic mutations are associated with impaired glycosylation and a hyper-IgE-like phenotype. | Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.
Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, Patiroglu T, Unal E, Ozdemir MA, Jouhadi Z, Khadir K, Ben-Khemis L, Ben-Ali M, Ben-Mustapha I, Borchani L, Pfeifer D, Jakob T, Khemiri M, Asplund AC, Gustafsson MO, Lundin KE, Falk-Sörqvist E, Moens LN, Gungor HE, Engelhardt KR, Dziadzio M, Stauss H, Fleckenstein B, Meier R, Prayitno K, Maul-Pavicic A, Schaffer S, Rakhmanov M, Henneke P, Kraus H, Eibel H, Kölsch U, Nadifi S, Nilsson M, Bejaoui M, Schäffer AA, Smith CI, Dell A, Barbouche MR, Grimbacher B., Free PMC Article | 08/23/2014 |
| Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe atopy, immune deficiency, autoimmunity, intellectual disability, and hypomyelination. | Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD., Free PMC Article | 08/23/2014 |
| Observational study of gene-disease association. (HuGE Navigator) | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. | 12/5/2010 |
| Polymorphic analysis of the human phosphoglucomutase-3 gene. | Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique.
Pang H, Li Z, Wang B, Ding M, Pang H, Li Z, Wang B, Ding M. | 06/14/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Polymorphic analysis of the human phosphoglucomutase-3 gene based on mismatched PCR-RFLP technique.
Pang H, Li Z, Wang B, Ding M, Pang H, Li Z, Wang B, Ding M. | 04/7/2010 |
| PGM(3) is identical to AGM(1). | Identification of human phosphoglucomutase 3 (PGM3) as N-acetylglucosamine-phosphate mutase (AGM1).
Pang H, Koda Y, Soejima M, Kimura H. | 01/21/2010 |