ArticleAmerican journal of human genetics1995
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 60 citations in OpenAlex.
- Phosphofructokinase-1 in Cancer: A Promising Target for Diagnosis and Therapy.Recent patents on anti-cancer drug discovery · 2025Review
- Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.Frontiers in genetics · 2024Article
- Acrylamide and Potential Risk of Diabetes Mellitus: Effects on Human Population, Glucose Metabolism and Beta-Cell Toxicity.International journal of molecular sciences · 2022Review
- Review
- Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).Frontiers in neurology · 2020Article
- Cytosolic GAPDH as a redox-dependent regulator of energy metabolism.BMC plant biology · 2018Article
- Annexins A2 and A6 interact with the extreme N terminus of tau and thereby contribute to tau's axonal localization.The Journal of biological chemistry · 2018Article
- The Planktonic Core Microbiome and Core Functions in the Cattle Rumen by Next Generation Sequencing.Frontiers in microbiology · 2018Article
- Glycolytic Functions Are Conserved in the Genome of the Wine Yeast Hanseniaspora uvarum, and Pyruvate Kinase Limits Its Capacity for Alcoholic Fermentation.Applied and environmental microbiology · 2017Article
- Effect of the cancer specific shorter form of human 6-phosphofructo-1-kinase on the metabolism of the yeast Saccharomyces cerevisiae.BMC biotechnology · 2017Article
- Melatonin Attenuates Potato Late Blight by Disrupting Cell Growth, Stress Tolerance, Fungicide Susceptibility and Homeostasis of Gene Expression inFrontiers in plant science · 2017Article
- Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease.Frontiers in neurology · 2016Article
- The sarcomeric M-region: a molecular command center for diverse cellular processes.BioMed research international · 2015Review
- Crystallization and preliminary crystallographic analysis of human muscle phosphofructokinase, the main regulator of glycolysis.Acta crystallographica. Section F, Structural biology communications · 2014Article
- Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase.The Journal of biological chemistry · 2012Article
- A novel role of the yeast CaaX protease Ste24 in chitin synthesis.Molecular biology of the cell · 2010Article
- Subunit interactions and composition of the fructose 6-phosphate catalytic site and the fructose 2,6-bisphosphate allosteric site of mammalian phosphofructokinase.The Journal of biological chemistry · 2009Article
- The Princeton Protein Orthology Database (P-POD): a comparative genomics analysis tool for biologists.PloS one · 2007Article
- Identification of C-terminal motifs responsible for transmission of inhibition by ATP of mammalian phosphofructokinase, and their contribution to other allosteric effects.The Biochemical journal · 2004Article
- Divergence of eukaryotic secretory components: the Candida albicans homolog of the Saccharomyces cerevisiae ++Sec20 protein is N terminally truncated, and its levels determine antifungal drug resistance and growth.Journal of bacteriology · 2001Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human phosphofructokinase (PFK) is a tetrameric enzyme, encoded by muscle, liver, and platelet genes. Deficiency of muscle PFK (PFK-M), glycogenosis type VII (Tarui disease), is an autosomal recessive disorder characterized by an exertional myopathy and hemolytic syndrome. Several disease-causing mutations have been identified in the PFK-M gene in Japanese, Ashkenazi Jewish, and Italian patients. We describe the genetic defects in French Canadian and Swiss patients with the disease, and we use a genetically well-defined yeast system devoid of endogenous PFK for structure-function studies of the mutant PFKs. A G-to-A transition at codon 209-in exon 8 of the PFK-M gene, changing an encoded Gly to Asp, is responsible for the disease in a homozygous French Canadian patient. Gly-209-mutated protein is completely inactive in the yeast system. The Swiss patient is a genetic compound, carrying a G-to-A transition at codon 100 in exon 6 (Arg to Gln) and a G-to-A transition at codon 696 in exon 22 (Arg to His). The mutants expressed in yeast generate functional enzyme with modest changes in thermal stability. The advantages and limitations of the yeast system for expression of human mutant PFKs are discussed.
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Identifiers
7825568PMC1801305W1576335861What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.