Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis

PLoS Genetics

Volumn 5, Issue 8, 2009, Pages

  García, Miguel ^a,b   Pujol, Anna ^a,b   Ruzo, Albert ^a,b   Riu, Efrén ^a,b   Ruberte, Jesús ^a,b   Arbós, Anna ^a   Serafín, Anna ^a   Albella, Beatriz ^c   Felíu, Juan Emilio ^a,b   Bosch, Fátima ^a,b  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c CIEMAT   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

6 PHOSPHOFRUCTOKINASE; ADENOSINE TRIPHOSPHATE; 1 PHOSPHOFRUCTOKINASE; 1-PHOSPHOFRUCTOKINASE; GLYCOGEN;

AEROBIC METABOLISM; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOENERGY; BREATHING MUSCLE; CONTROLLED STUDY; ERYTHROCYTE; ERYTHROCYTE METABOLISM; GENE MUTATION; GLUCOSE METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 7; GLYCOLYSIS; HEART DISEASE; HEART VENTRICLE HYPERTROPHY; HEMATOLOGIC DISEASE; HEMOLYSIS; HYPOXIA; IMMUNOHISTOCHEMISTRY; MOUSE; MUSCLE NECROSIS; NONHUMAN; PATHOGENESIS; PHOSPHOFRUCTO 1 KINASE DEFICIENCY; RETICULOCYTOSIS; SKELETAL MUSCLE; SPLENOMEGALY; TRANSMISSION ELECTRON MICROSCOPY; ANIMAL; C57BL MOUSE; CARDIOMEGALY; DISEASE MODEL; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MOUSE MUTANT;

MUS;

ANIMALS; CARDIOMEGALY; DISEASE MODELS, ANIMAL; ERYTHROCYTES; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE VII; HEMATOLOGIC DISEASES; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUSCLE, SKELETAL; PHOSPHOFRUCTOKINASE-1;

EID: 70149085458     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1000615     Document Type: Article

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