Disease: Phosphoglycerate kinase 1 deficiency
- A diagnostic algorithm for metabolic myopathies
- A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency
- A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review
- 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 <em>PGK1</em> mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria
- A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population
- A protector effect of cytokinin preparations on the photosynthetic apparatus of wheat plants under water deficiency conditions
- A targeted deletion/insertion in the mouse Pcsk1 locus is associated with homozygous embryo preimplantation lethality, mutant allele preferential transmission and heterozygous female susceptibility to dietary fat
- Activity of NADP-dependent glyceraldehyde-phosphate dehydrogenase and phosphoenolpyruvate carboxylase in wheat leaves under water stress
- Adaptive response to l-serine deficiency is mediated by p38 MAPK activation via 1-deoxysphinganine in normal fibroblasts
- An atypical case of phosphoglycerate kinase deficiency with a novel PGK1 variant
- An LKB1-mitochondria axis controls T<sub>H</sub>17 effector function
- Autoimmune Regulator (AIRE) Is Expressed in Spermatogenic Cells, and It Altered the Expression of Several Nucleic-Acid-Binding and Cytoskeletal Proteins in Germ Cell 1 Spermatogonial (GC1-spg) Cells
- CARM1/PRMT4 is necessary for the glycogen gene expression programme in skeletal muscle cells
- Case 4: Recurrent Orange Urine and Abdominal Pain in a 13-year-old Boy
- Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL Gene
- Complete correction of murine Artemis immunodeficiency by lentiviral vector-mediated gene transfer
- Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
- Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice
- Destabilization of Eukaryote mRNAs by 5' Proximal Stop Codons Can Occur Independently of the Nonsense-Mediated mRNA Decay Pathway
- Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients
- Dual responsive promoters to target therapeutic gene expression to radiation-resistant hypoxic tumor cells
- Dysfunction of pseudogene PGK1P2 is involved in preeclampsia by acting as a competing endogenous RNA of PGK1
- 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 <em>PGK-1</em> mutations contribute to vulnerability to parkinsonism?
- Effect of arylamine acetyltransferase Nat3 gene knockout on N-acetylation in the mouse
- Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo
- Gene therapy for canine leukocyte adhesion deficiency with lentiviral vectors using the murine stem cell virus and human phosphoglycerate kinase promoters
- Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV
- Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder
- Genome-wide identification of pseudogenes capable of disease-causing gene conversion
- Glucose induces rapid changes in the secretome of Saccharomyces cerevisiae
- Glycogen Storage Disease
- High Level of Perforin Expression Is Required for Effective Correction of Hemophagocytic Lymphohistiocytosis
- 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
- Hypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivo
- Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit)
- Identification of PGAM5 as a Mammalian Protein Histidine Phosphatase that Plays a Central Role to Negatively Regulate CD4(+) T Cells
- 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
- Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses
- Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing
- iTRAQ-based quantitative proteomic and physiological analysis of the response to N deficiency and the compensation effect in rice
- Knockdown of hypoxia-inducible factor-1alpha in breast carcinoma MCF-7 cells results in reduced tumor growth and increased sensitivity to methotrexate
- Lentiviral gene therapy using cellular promoters cures type 1 Gaucher disease in mice
- 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.)
- Lymphomagenesis in SCID-X1 mice following lentivirus-mediated phenotype correction independent of insertional mutagenesis and gammac overexpression
- 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 dysregulation and emerging therapeutical targets for hepatocellular carcinoma
- Mitochondrial Protein PGAM5 Regulates Mitophagic Protection against Cell Necroptosis
- Mitochondrial translation deficiency impairs NAD<sup>+</sup> -mediated lysosomal acidification
- Monoclonal anti-double-stranded DNA antibodies cross-react with phosphoglycerate kinase 1 and inhibit the expression and production of IL-2 in activated Jurkat T cell line
- Muscle phosphoglycerate mutase deficiency revisited
- Myopathies Related to Glycogen Metabolism Disorders
- Novel Drosophila model for parkinsonism by targeting phosphoglycerate kinase
- Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction
- Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency
- PGAM1 deficiency ameliorates myocardial infarction remodeling by targeting TGF-β via the suppression of inflammation, apoptosis and fibrosis
- PGAM5 is a key driver of mitochondrial dysfunction in experimental lung fibrosis
- PGK deficiency
- pH-dependent relationship between thermodynamic and kinetic stability in the denaturation of human phosphoglycerate kinase 1
- Phosphoglycerate Kinase 1 Phosphorylates Beclin1 to Induce Autophagy
- Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy
- Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
- 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
- Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama
- Plant peroxisomes respire in the light: some gaps of the photorespiratory C2 cycle have become filled--others remain
- Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE
- Protein Stability, Folding and Misfolding in Human PGK1 Deficiency
- Quantitative expression proteomics and phosphoproteomics profile of brain from PINK1 knockout mice: insights into mechanisms of familial Parkinson's disease
- Reactive oxygen species regulate Smac mimetic/TNFα-induced necroptotic signaling and cell death
- 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
- Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency
- Retroviral vectors encoding ADA regulatory locus control region provide enhanced T-cell-specific transgene expression
- Role of transgene regulation in ex vivo lentiviral correction of artemis 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
- Sperm function, protein phosphorylation, and metabolism differ in mice lacking successive sperm-specific glycolytic enzymes
- Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency
- Targeted deletion of miR-182, an abundant retinal microRNA
- The autophagic degradation of cytosolic pools of peroxisomal proteins by a new selective pathway
- 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 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 regulation of exosome secretion: a novel function of the p53 protein
- The testicular fatty acid binding protein PERF15 regulates the fate of germ cells in PERF15 transgenic mice
- 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
- VEGF-independent cell-autonomous functions of HIF-1α regulating oxygen consumption in fetal cartilage are critical for chondrocyte survival
- Vps10-mediated targeting of Pep4 determines the activity of the vacuole in a substrate-dependent manner
- X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity