Disease: Phosphoglycerate kinase deficiency
- 1H and 31P magnetic resonance spectroscopy study of a case of phosphoglycerate kinase deficiency
- A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review
- A modification of the fluorescent stain method for identifying a deficit of erythrocyte phosphoglycerate kinase in mass screening
- A negative waveform in the scotopic response in a patient with phosphoglycerate kinase deficiency: a visual electrophysiology report
- A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: molecular and functional characterization
- A nitrogen stress-inducible small RNA regulates CO2 fixation in Nostoc
- A novel missense mutation (1060G --> C) in the phosphoglycerate kinase gene in a Japanese boy with chronic haemolytic anaemia, developmental delay and rhabdomyolysis
- A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency
- A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population
- A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: mechanism of mutation and structure-function relationships
- A single amino acid substitution (157 Gly----Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria
- A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)
- Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency
- An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant
- An LKB1-mitochondria axis controls T<sub>H</sub>17 effector function
- Anaesthesia Challenges for a Patient with Phosphoglycerate Kinase Deficiency Undergoing Open Gastrostomy Procedure: A Case Report
- Biochemical analysis using biopsied muscle in 72 patients with metabolic myopathies
- Bone marrow transplantation in phosphoglycerate kinase (PGK) deficiency
- Bone metastatic breast cancer cells display downregulation of PKC-ζ with enhanced glutamine metabolism
- Case 4: Recurrent Orange Urine and Abdominal Pain in a 13-year-old Boy
- Clinical and biochemical analysis of 27 patients with myoglobinuria of unknown causes
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
- Deficiencies of glycolytic enzymes as a possible cause of hemolytic anemia
- E3 ubiquitin ligase ring finger protein 5 protects against hepatic ischemia reperfusion injury by mediating phosphoglycerate mutase family member 5 ubiquitination
- Early-onset parkinsonism in a pedigree with phosphoglycerate kinase deficiency and a heterozygous carrier: do PGK-1 mutations contribute to vulnerability to parkinsonism?
- Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo
- Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation
- Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?
- Genome-wide identification of pseudogenes capable of disease-causing gene conversion
- Glucose phosphate isomerase (GPI) Tadikonda: Characterization of a novel Pro340Ser mutation
- Glycogen Storage Disease
- Glycolytic defects in muscle: aspects of collaboration between basic science and clinical medicine
- Heat shock-induced chaperoning by Hsp70 is enabled in-cell
- Hereditary myopathies associated with hematological abnormalities
- HIF-1 alpha is required for solid tumor formation and embryonic vascularization
- Histone demethylase JMJD1A promotes urinary bladder cancer progression by enhancing glycolysis through coactivation of hypoxia inducible factor 1α
- Hyperammonaemia following exercise may also reveal PGK1 deficiency
- Hypoxanthine phosphoribosyl transferase deficiency, haematopoiesis and fertility in the mouse
- Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit)
- Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Créteil and PGK Amiens
- Improving glucose metabolism in the auditory cortex delays the aging of auditory function of guinea pig
- In Saccharomyces cerevisiae, withdrawal of the carbon source results in detachment of glycolytic enzymes from the cytoskeleton and in actin reorganization
- Inherited neurological diseases due to carbohydrate metabolic defect
- Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses
- iTRAQ-based quantitative proteomic and physiological analysis of the response to N deficiency and the compensation effect in rice
- Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency
- Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency
- Low nitrogen stress-induced transcriptome changes revealed the molecular response and tolerance characteristics in maintaining the C/N balance of sugar beet (<em>Beta vulgaris</em> L.)
- Macrophagic myofasciitis in children is a localized reaction to vaccination
- Mass spectrometry-based stable-isotope tracing uncovers metabolic alterations in pyruvate kinase-deficient Aedes aegypti mosquitoes
- Metabolic disorder of carbohydrate
- Metabolic dysregulation and emerging therapeutical targets for hepatocellular carcinoma
- Metabolic myopathies--part I: disorders of the carbohydrate metabolism
- Mitochondrial changes in muscle phosphoglycerate kinase deficiency
- Mitochondrial translation deficiency impairs NAD<sup>+</sup> -mediated lysosomal acidification
- Molecular abnormality of a phosphoglycerate kinase variant (PGK-Alabama)
- Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred
- Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency
- Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency
- Myoglobinuria due to enzyme abnormalities in glycolytic pathway--especially lactate dehydrogenase M subunit deficiency
- Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations
- Myopathy and parkinsonism in phosphoglycerate kinase deficiency
- Novel Drosophila model for parkinsonism by targeting phosphoglycerate kinase
- Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency
- Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction
- PAS domain-containing phosphoglycerate kinase deficiency in Leishmania major results in increased autophagosome formation and cell death
- PGAM1 deficiency ameliorates myocardial infarction remodeling by targeting TGF-β via the suppression of inflammation, apoptosis and fibrosis
- PGK deficiency
- pH-dependent relationship between thermodynamic and kinetic stability in the denaturation of human phosphoglycerate kinase 1
- Phosphoglycerate kinase deficiency
- Phosphoglycerate kinase deficiency
- Phosphoglycerate kinase deficiency
- Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy
- Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms
- Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
- Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation
- Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
- Phosphoglycerate Kinase Is Involved in Carbohydrate Utilization, Extracellular Polysaccharide Biosynthesis, and Cell Motility of <em>Xanthomonas axonopodis</em> pv. <em>glycines</em> Independent of Clp
- Production of a heterozygous mutant cell line by homologous recombination (single knockout)
- Progress and problems in muscle glycogenoses
- Recognition of a novel variant of phosphoglycerate kinase 1 deficiency <em>PGK1</em> Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy
- Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy
- Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency
- Red cell enzymopathies as a model of inborn errors of metabolism
- Red cell enzymopathies of the glycolytic pathway
- Red cell glycolytic enzyme disorders caused by mutations: an update
- Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency
- Seedling growth and photosynthetic response of <em>Pterocarpus indicus</em> L. to shading stress
- Slowly progressive leukodystrophy in an adolescent male with phosphoglycerate kinase deficiency
- Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency
- Tarui disease and distal glycogenoses: clinical and genetic update
- The Brucella abortus phosphoglycerate kinase mutant is highly attenuated and induces protection superior to that of vaccine strain 19 in immunocompromised and immunocompetent mice
- The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA
- The interplay between protein stability and dynamics in conformational diseases: the case of hPGK1 deficiency
- The long noncoding RNA glycoLINC assembles a lower glycolytic metabolon to promote glycolysis
- The molecular basis of disorders of red cell enzymes
- Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])
- Three consecutive cytosolic glycolysis enzymes modulate autophagic flux
- Uterine deficiency of Dnmt3b impairs decidualization and causes consequent embryo implantation defects
- X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity