Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Chiarelli, Laurent R ^a   Morera, Simone M ^a   Bianchi, Paola ^b   Fermo, Elisa ^b   Zanella, Alberto ^b   Galizzi, Alessandro ^a   Valentini, Giovanna ^a  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOGLYCERATE KINASE; RECOMBINANT ENZYME; MUTANT PROTEIN;

CATALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME KINETICS; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; MOLECULAR PATHOLOGY; MYOPATHY; NEUROLOGIC DISEASE; PHOSPHOGLYCERATE KINASE DEFICIENCY; PROTEIN STABILITY; REVIEW; THERMOSTABILITY; ARTICLE; GENETICS; KINETICS; MUTATION; PHENOTYPE;

ANEMIA, HEMOLYTIC; HUMANS; KINETICS; MUTANT PROTEINS; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; PHOSPHOGLYCERATE KINASE; PROTEIN STABILITY;

EID: 84856876947     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032065     Document Type: Review

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