• A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation
• A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
• A Hotspot for Disease-Associated Variants of Human PGM1 Is Associated with Impaired Ligand Binding and Loop Dynamics
• A missense variant remote from the active site impairs stability of human phosphoglucomutase 1
• A new D-galactose treatment monitoring index for PGM1-CDG
• A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality
• AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)
• An engineered lipid remodeling system using a galactolipid synthase promoter during phosphate starvation enhances oil accumulation in plants
• An Update on Syndromes with a Hyper-IgE Phenotype
• Asp263 missense variants perturb the active site of human phosphoglucomutase 1
• Aspen growth is not limited by starch reserves
• Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
• Autosomal Recessive Phosphoglucomutase 3 (PGM3) Mutations Link Glycosylation Defects to Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment
• Capsule Production and Glucose Metabolism Dictate Fitness during <em>Serratia marcescens</em> Bacteremia
• Cell wall composition and penetration resistance against the fungal pathogen Colletotrichum higginsianum are affected by impaired starch turnover in Arabidopsis mutants
• Central nervous involvement is common in PGM1-CDG
• Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene
• Coagulation abnormalities and vascular complications are common in PGM1-CDG
• Combined multivariate analysis and machine learning reveals a predictive module of metabolic stress response in Arabidopsis thaliana
• Common Variable Immunodeficiency and Other Immunodeficiency Syndromes in Bronchiectasis
• Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
• Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency
• CT295 Is <em>Chlamydia trachomatis'</em> Phosphoglucomutase and a Type 3 Secretion Substrate
• CT295 Is Chlamydia trachomatis' Phosphoglucomutase and a Type 3 Secretion Substrate
• Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients
• Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
• Depletion of UDP-Glucose and UDP-Galactose Using a Degron System Leads to Growth Cessation of Leishmania major
• Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry
• Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
• Disease severity and clinical outcome in phosphosglucomutase deficiency
• Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion
• Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness
• Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
• Enhanced leavening ability of baker's yeast by overexpression of SNR84 with PGM2 deletion
• Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1
• Eosinophilia Associated with Disorders of Immune Deficiency or Immune Dysregulation
• ERBIN and phosphoglucomutase 3 deficiency
• Erratum: [Advance Publication] Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness
• Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
• False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
• Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
• Glycogen Storage Disease
• Glycogen Storage Disease
• Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient
• High expression of glycolysis-related <em>PGM2</em> gene in relation to poor prognosis and deficient immune cells infiltration in lung adenocarcinoma: a study based on bioinformatics analysis
• High expression of glycolysis-related PGM2 gene in relation to poor prognosis and deficient immune cells infiltration in lung adenocarcinoma: a study based on bioinformatics analysis
• Human hyper-IgE syndrome: singular or plural?
• Hyper-IgE Syndromes and the Lung
• Hyper-IgE syndromes: reviewing PGM3 deficiency
• Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
• Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
• In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
• Inactivation of the phosphoglucomutase gene pgm in Paenibacillus polymyxa leads to overproduction of fusaricidin
• Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency
• Influence of starch deficiency on photosynthetic and post-photosynthetic carbon isotope fractionations
• Inhibitory Role of Greatwall-Like Protein Kinase Rim15p in Alcoholic Fermentation via Upregulating the UDP-Glucose Synthesis Pathway in Saccharomyces cerevisiae
• Insights into soybean transcriptome reconfiguration under hypoxic stress: Functional, regulatory, structural, and compositional characterization
• Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
• International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
• Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances
• Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells
• Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population
• Limitations of galactose therapy in phosphoglucomutase 1 deficiency
• Liver glucose metabolism in humans
• Modified Monosaccharides Content of Xanthan Gum Impairs Citrus Canker Disease by Affecting the Epiphytic Lifestyle of <em>Xanthomonas citri</em> subsp. <em>citri</em>
• Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients
• Multiple phenotypes in phosphoglucomutase 1 deficiency
• Multiple phenotypes in phosphoglucomutase 1 deficiency
• Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function
• Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran
• News on Clinical Details and Treatment in PGM1-CDG
• Normal Term Deliveries in a Patient with Phosphoglucomutase 1 Deficiency
• Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
• Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features
• Oral D-galactose supplementation in PGM1-CDG
• Parental salt priming improves the low temperature tolerance in wheat offspring via modulating the seed proteome
• Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib
• PGM1 deficiency diagnosed during an endocrine work-up of low IGF-1 mediated growth failure
• PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose
• PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
• Phosphoglucomutase 1 inhibits hepatocellular carcinoma progression by regulating glucose trafficking
• Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
• Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency
• Phosphoglucomutase1 is necessary for sustained cell growth under repetitive glucose depletion
• Profound differences in IgE and IgG recognition of micro-arrayed allergens in hyper-IgE syndromes
• Search for rare liver diseases: the case of glycosylation defects mimicking Wilson Disease
• Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1
• Starch biosynthetic genes and enzymes are expressed and active in the absence of starch accumulation in sugar beet tap-root
• Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the alpha-D-phosphohexomutase superfamily
• Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily
• Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)
• Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
• The Mechanism of Starch Over-Accumulation in <em>Chlamydomonas reinhardtii</em> High-Starch Mutants Identified by Comparative Transcriptome Analysis
• The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
• The phosphorylation of phosphoglucosamine mutase GlmM by Ser/Thr kinase STK mediates cell wall synthesis and virulence in Streptococcus suis serotype 2
• The starch-deficient plastidic PHOSPHOGLUCOMUTASE mutant of the constitutive crassulacean acid metabolism (CAM) species Kalanchoe fedtschenkoi impacts diel regulation and timing of stomatal CO2 responsiveness
• The yeast protein Ubx4p contributes to mitochondrial respiration and lithium-galactose-mediated activation of the unfolded protein response
• Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
• Update on new muscle glycogenosis
• What have we learned about glycogenosis in recent years?