PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

No abstract is available for this paper.

• Publication year

  1965

• Venue

  Biochemical and Biophysical Research Communications - BBRC

• Publication date

  1965-05-03

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/0006-291X(65)90156-7PMID 14339001
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• DEVELOPMENT OF PHOSPHORYLASE AND PHOSPHORYLASE-ACTIVATING (GLUCAGON-LIKE) SUBSTANCES IN THE RAT EMBRYO.

  1964cited by this paper
• Metabolism and cell wall structure of a mutant of Salmonella typhimurium deficient in phosphoglucose isomerase.

  1963cited by this paper
• GLYCOGEN IN ERYTHROCYTES OF PATIENTS WITH GLYCOGEN STORAGE DISEASE

  1961cited by this paper
• A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

  1959cited by this paper
• Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle.

  1959cited by this paper
• MYOPATHY DUE TO A DEFECT IN MUSCLE GLYCOGEN BREAKDOWN

  1951cited by this paper
• Phosphomannose isomerase.

  1950cited by this paper
• Determination of serum proteins by means of the biuret reaction.

  1949cited by this paper
• Crystalline d-glyceraldehyde-3-phosphate dehydrogenase from rabbit muscle.

  1948cited by this paper
• The colorimetric determination of lactic acid in biological material.

  1941cited by this paper
• THE SOLUBILITY AND PREPARATION OF PHOSPHORUS- AND NITROGEN-FREE GLYCOGEN

  1934cited by this paper

• PFKM governs metabolic shifts throughout skeletal muscle differentiation

  2026influential citation
• Bidirectional allosteric ligand regulation in a central glycolytic enzyme

  2026cites this paper
• 276th ENMC workshop: recommendations on optimal diagnostic pathway and management strategy for patients with acute rhabdomyolysis worldwide. 15th-17th March 2024, Hoofddorp, The Netherlands.

  2025cites this paper
• A peculiar case of persistent CPK elevation in a person diagnosed with acute HIV: what is behind?

  2025cites this paper
• The return of metabolism: biochemistry and physiology of glycolysis

  2025cites this paper
• A Covalent PFKL Activator Suppresses Tumor Growth

  2025cites this paper
• Targeting the Warburg effect: A revisited perspective from molecular mechanisms to traditional and innovative therapeutic strategies in cancer

  2023cites this paper
• Glycogen storage diseases

  2023cites this paper
• Hitting the Sweet Spot: How Glucose Metabolism Is Orchestrated in Space and Time by Phosphofructokinase-1

  2023cites this paper
• Cancer-associated somatic mutations in human phosphofructokinase-1 reveal a critical electrostatic interaction for allosteric regulation of enzyme activity

  2023cites this paper
• Critical illness-associated weakness and related motor disorders.

  2023cites this paper
• Hereditary myopathies associated with hematological abnormalities

  2022cites this paper
• No effect of triheptanoin in patients with phosphofructokinase deficiency.

  2022influential citation
• Tarui Disease Caused by a Novel PFKM Genetic Variant in a Sub-Saharan African Patient.

  2022cites this paper
• Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.

  2021cites this paper
• Clinical practice guidelines for Glycogen Storage Disease V & VII (McArdle disease and Tarui disease) from an international study group.

  2021cites this paper
• Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

  2020cites this paper
• Winter is coming: Regulation of cellular metabolism by enzyme polymerization in dormancy and disease.

  2020cites this paper
• Metabolic Myopathies I

  2020cites this paper
• No Dataset Left Behind: Mechanistic Insights into Thyroid Receptor Signaling Through Transcriptomic Consensome Meta-Analysis

  2020cites this paper
• Regulation of Canine Skeletal Muscle Phosphofructokinase-1 by Adenine Nucleotides

  2019cites this paper
• Regulation of Skeletal Muscle Glucose Transport and Glucose Metabolism by Exercise Training

  2019cites this paper
• CLINICAL APPLICATION OF MASSIVE PARALLEL SEQUENCING IN MOLECULAR DIAGNOSTICS OF HEREDITARY DISEASES OF GLYCOGEN ACCUMULATION IN THE CHILDREN POPULATION OF THE RUSSIAN FEDERATION

  2019cites this paper
• Anémies hémolytiques dues à des déficits en enzymes érythrocytaires autres que la G6PD

  2019cites this paper
• Muscle cramps: A comparison of the two-leading hypothesis.

  2018cites this paper
• Glycogénoses

  2018cites this paper
• Metabolic Myopathies and Related Diseases

  2018cites this paper
• Myopathies Related to Glycogen Metabolism Disorders

  2018cites this paper
• 39 – Diseases Associated with Primary Abnormalities in Carbohydrate Metabolism

  2017cites this paper
• SYMPTOMS, DIAGNOSIS AND TREATMENT OF TARUI DISEASE: AN AUTOSOMAL RECESSIVE DISORDER

  2017cites this paper
• 211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.

  2017cites this paper
• Snail reprograms glucose metabolism by repressing phosphofructokinase PFKP allowing cancer cell survival under metabolic stress

  2017cites this paper
• Overview of the Muscle Cytoskeleton.

  2017cites this paper
• Nonmitochondrial Metabolic Cardioskeletal Myopathies

  2017cites this paper
• Muscle injury, impaired muscle function and insulin resistance in Chromogranin A-knockout mice.

  2017cites this paper
• 14 Perifeer-neurologische aandoeningen

  2016cites this paper
• A genetic investigation of the muscle and neuronal channelopathies: from Sanger to next-generation sequencing

  2016cites this paper
• Glycogen storage diseases: Diagnosis, treatment and outcome

  2016cites this paper
• Muscle injury and impaired function , and insulin resistance in Chromogranin A knockout mice 2 3 By 4 5

  2016cites this paper
• Skeletal muscle disorders of glycogenolysis and glycolysis

  2016cites this paper
• Diagnostic evaluation of rhabdomyolysis

  2015cites this paper
• Polyglucosan storage myopathies.

  2015cites this paper
• PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

  2015cites this paper
• Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations

  2015cites this paper
• Metabolic and mitochondrial myopathies.

  2014cites this paper
• GLYCOGENOSES: AN OVEREVIEW

  2014cites this paper
• Glicogenoses: uma revisão geral = Glycogenoses: an overeview

  2014cites this paper
• Approach to Childhood-Onset Muscle Cramps, Exercise Intolerance, and Recurrent Myoglobinuria

  2014cites this paper
• A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

  2014cites this paper
• Other Hereditary Red Blood Cell Disorders

  2013cites this paper
• Structure and allosteric regulation of eukaryotic 6-phosphofructokinases

  2013cites this paper
• [Metabolic myopathies].

  2013cites this paper
• First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

  2013cites this paper
• Disorders of Muscle Glycogen Metabolism

  2013cites this paper
• Clinical Aspects of Gout and Associated Disease States

  2013cites this paper
• [Exercise-induced muscle pain due to phosphofrutokinase deficiency: Diagnostic contribution of metabolic explorations (exercise tests, 31P-nuclear magnetic resonance spectroscopy)].

  2013cites this paper
• Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.

  2012cites this paper
• Chapter 66 – Inborn Errors of Metabolism that Lead to Permanent Liver Injury

  2012cites this paper
• Chapter 75 – Metabolic and Mitochondrial Myopathies

  2012cites this paper
• Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.

  2012cites this paper
• Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

  2012cites this paper
• Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN au p31)

  2012cites this paper
• Phosphofructokinase Deficiency Hereditary Nonspherocytic Hemolysis With Erythrocyte

  2011cites this paper
• erythrocytes induced hemolysis: increased in vitro and in vivo alkaline fragility of Inherited phosphofructokinase deficiency in dogs with hyperventilation-

  2011cites this paper
• Progress and problems in muscle glycogenoses

  2011cites this paper
• Phosphofructokinase deficiency and portal and mesenteric vein thrombosis.

  2011cites this paper
• Chapter 47: history of clinical neurology in Japan.

  2010cites this paper
• Inborn Errors of Energy Metabolism Associated with Myopathies

  2010cites this paper
• Glycogen hyperphosphorylation underlies lafora body formation

  2010cites this paper
• Disorders of Voluntary Muscle: Dystrophinopathies

  2010cites this paper
• Transcriptomic analysis of dystrophin RNAi knockdown reveals a central role for dystrophin in muscle differentiation and contractile apparatus organization

  2010cites this paper
• Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis

  2009cites this paper
• Comparative Medical Genetics

  2008cites this paper
• [Hereditary metabolic muscular diseases caused by demonstrable enzyme defect].

  2008cites this paper
• CURRENT Metabolic myopathy

  2008cites this paper
• Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course

  2007cites this paper
• Reflex inhibition of normal cramp following electrical stimulation of the muscle tendon.

  2007cites this paper
• Ashkenazi Jewish Patients with Glycogenesis VllIand Their Population Frequency

  2007cites this paper
• Analysis of gene expression during the onset of muscle hypertrophy in callipyge lambs.

  2007cites this paper
• Chapter 30 – Storage Diseases: Neuronal Ceroid‐Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies

  2007cites this paper
• Disorders of carbohydrate metabolism.

  2007cites this paper
• Glycogen storage diseases: new perspectives.

  2007cites this paper
• Chapter 69 – Inborn Errors of Metabolism that Lead to Permanent Liver Injury

  2006cites this paper
• Anémies hémolytiques dues à des déficits en enzymes érythrocytaires autres que la G6PD

  2006cites this paper
• Mialgia postejercicio: revisión de sus causas y de las bases fisioterápicas en su tratamiento

  2006cites this paper
• Estudio de calambres en los maratonistas

  2006cites this paper
• Two types of phosphofructokinase-1 differentially regulate the glycolytic pathway in insulin-stimulated chicken skeletal muscle.

  2006cites this paper
• Erythrocyte Glycolysis and Its Marked Alteration by Muscular Exercise in Type

  2005cites this paper
• With Erythrocyte Phosphofructokinase Deficiency

  2005cites this paper
• Inherited erythrocyte phosphofructokinase deficiency: Molecular mechanism

  2004cites this paper
• Histochemical technique for the demonstration of phosphofructokinase activity in heart and skeletal muscles

  2004cites this paper
• Loss of Skeletal Muscle HIF-1α Results in Altered Exercise Endurance

  2004influential citation
• Myopathies due to enzyme deficiencies

  2004cites this paper
• The effect of an α-ketoglutarate-pyridoxine complex on human maximal aerobic and anaerobic performance

  2004cites this paper
• Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency

  2004cites this paper
• A review of animal phosphofructokinase isozymes with an emphasis on their physiological role

  2004cites this paper
• Advances in hereditary red cell enzyme anomalies

  2004cites this paper
• Skeletal muscle glycogenosis type II: Biochemical and electron microscopic investigations of one case

  2004cites this paper
• [Diagnostic and management protocol for patients with muscular exercise intolerance].

  2004cites this paper
• Blood cell phosphofructokinase in Down's syndrome

  2004cites this paper