Associated Papers
X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.
Guimarães TG et al.
Movement Disorders Clinical Practice, 2024
Phosphoglycerate kinase 1 acts as a cargo adaptor to promote EGFR transport to the lysosome.
Chu SL et al.
Nature Communications, 2024
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.
Gutierrez E et al.
Pediatric Hematology and Oncology, 2023
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Baba K et al.
Internal Medicine (tokyo, Japan), 2022
PTEN Suppresses Glycolysis by Dephosphorylating and Inhibiting Autophosphorylated PGK1.
Qian X et al.
Molecular Cell, 2019
A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.
Garcia-Solaesa V et al.
Genes, 2019
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.
Echaniz-Laguna A et al.
Journal of Inherited Metabolic Disease, 2019
Identification of a novel variant in phosphoglycerate kinase-1 (PGK1) in an African-American child (PGK1 Detroit).
Zaidi AU et al.
Pediatric Hematology and Oncology, 2019
Parkinsonism in PGK1 deficiency implicates the glycolytic pathway in nigrostriatal dysfunction.
Morales-Briceño H et al.
Parkinsonism & Related Disorders, 2019
A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.
Matsumaru S et al.
Intractable & Rare Diseases Research, 2017
Mitochondria-Translocated PGK1 Functions as a Protein Kinase to Coordinate Glycolysis and the TCA Cycle in Tumorigenesis.
Li X et al.
Molecular Cell, 2016
Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses.
Pey AL et al.
Journal of Inherited Metabolic Disease, 2014
Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.
Tamai M et al.
International Journal of Hematology, 2014
Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.
Virmani T et al.
Movement Disorders Clinical Practice, 2014
Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.
Valentini G et al.
Biomolecules, 2013
The interplay between protein stability and dynamics in conformational diseases: the case of hPGK1 deficiency.
Pey AL
Biochimica Et Biophysica Acta, 2013
Neuromuscular disorders of glycogen metabolism.
Gazzerro E et al.
Current Neurology and Neuroscience Reports, 2013
Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency.
Pey AL et al.
Biochemistry, 2013
Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.
Chiarelli LR et al.
Plos One, 2012
Progress and problems in muscle glycogenoses.
DiMauro S et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Myopathy and parkinsonism in phosphoglycerate kinase deficiency.
Sotiriou E et al.
Muscle & Nerve, 2010
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations.
Spiegel R et al.
Neuromuscular Disorders : Nmd, 2009