Disease: Phosphoglucomutase deficiency type 1
- 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 congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
- A Quantification of the Significance of Assimilatory Starch for Growth of Arabidopsis thaliana L. Heynh
- A Starchless Mutant of Nicotiana sylvestris Containing a Modified Plastid Phosphoglucomutase
- Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
- Alterations in Growth, Photosynthesis, and Respiration in a Starchless Mutant of Arabidopsis thaliana (L.) Deficient in Chloroplast Phosphoglucomutase Activity
- An engineered lipid remodeling system using a galactolipid synthase promoter during phosphate starvation enhances oil accumulation in plants
- Asp263 missense variants perturb the active site of human phosphoglucomutase 1
- Aspen growth is not limited by starch reserves
- Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies
- Biochemical characterization of avirulent exoC mutants of Agrobacterium tumefaciens
- Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli
- Carbon transitions from either Calvin cycle or transitory starch to heteroglycans as revealed by (14) C-labeling experiments using protoplasts from Arabidopsis
- Characterization of Neurospora crassa mutants deficient in glucosephosphate isomerase
- Cloning of a gene involved in cellulose biosynthesis in Acetobacter xylinum: complementation of cellulose-negative mutants by the UDPG pyrophosphorylase structural gene
- Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells
- 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
- Defects in leaf carbohydrate metabolism compromise acclimation to high light and lead to a high chlorophyll fluorescence phenotype in Arabidopsis thaliana
- 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
- Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1
- Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
- Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency
- Genetic analysis of phosphomannomutase/phosphoglucomutase from Vibrio furnissii and characterization of its role in virulence
- GLYCOGEN STORAGE DISEASE
- Glycogen Storage Disease
- Glycogen Storage Disease
- Gravitropism in a starchless mutant of Arabidopsis: implications for the starch-statolith theory of gravity sensing
- Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
- In vitro determined kinetic properties of mutant phosphoglucomutases and their effects on sugar catabolism in Escherichia coli
- Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency
- Induction of ApL3 expression by trehalose complements the starch-deficient Arabidopsis mutant adg2-1 lacking ApL1, the large subunit of ADP-glucose pyrophosphorylase
- Influence of starch deficiency on photosynthetic and post-photosynthetic carbon isotope fractionations
- Insertion and fate of the cell wall in Bacillus subtilis
- Isolation and characterization of mutants of common ice plant deficient in crassulacean acid metabolism
- Loss of starch granule initiation has a deleterious effect on the growth of arabidopsis plants due to an accumulation of ADP-glucose
- Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase
- Metabolic disorders in patients with primary carbohydrate deficient glycoprotein syndrome
- Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line
- Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients
- Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function
- Overexpression of Mycobacterium tuberculosis manB, a phosphomannomutase that increases phosphatidylinositol mannoside biosynthesis in Mycobacterium smegmatis and mycobacterial association with human macrophages
- 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
- Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
- Purification and enzymatic characterization of PgcM: a beta-phosphoglucomutase and glucose-1-phosphate phosphodismutase of Bacillus subtilis
- Reduced gravitropic sensitivity in roots of a starch-deficient mutant of Nicotiana sylvestris
- Reduced gravitropic sensitivity in roots of a starch-deficient mutant ofNicotiana sylvestris
- Root graviresponsiveness and cellular differentiation in wild-type and a starchless mutant of Arabidopsis thaliana
- Skin manifestations of protein glycosylation deficiency, the CDG (carbohydrate deficient glycoprotein) type 1 syndrome
- Sucrose synthase controls both intracellular ADP glucose levels and transitory starch biosynthesis in source leaves
- Teichoic acids and lipids associated with the membrane of a Bacillus licheniformis mutant and the membrane lipids of the parental strain
- The Mechanism of Starch Over-Accumulation in <em>Chlamydomonas reinhardtii</em> High-Starch Mutants Identified by Comparative Transcriptome Analysis
- 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