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Article

Altered allosteric regulation of muscle 6-phosphofructokinase causes Tarui disease.

Biochemical and biophysical research communications - 12 Oct 2012

Brüser Antje, Kirchberger Jürgen, Schöneberg Torsten

Abstract excerpt

Tarui disease is a glycogen storage disease (GSD VII) and characterized by exercise intolerance with muscle weakness and cramping, mild myopathy, myoglobinuria and compensated hemolysis. It is caused by mutations in the muscle 6-phosphofructokinase (Pfk). Pfk is an oligomeric, allosteric enzyme which catalyzes one of the rate-limiting steps of the glycolysis: the phosphorylation of fructose 6-phosphate at...

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Identifiers

PMID: 22995305
DOI: 10.1016/j.bbrc.2012.09.024

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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