Disease: Phosphoglucomutase deficiency
- 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
- 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
- Loss of starch granule initiation has a deleterious effect on the growth of arabidopsis plants due to an accumulation of ADP-glucose
- 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
- New insights in the field of muscle glycogenoses
- Newborn screening using TREC/KREC assay for severe T and B cell lymphopenia in Iran
- News on Clinical Details and Treatment in PGM1-CDG
- 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?