{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:08:02Z","timestamp":1789949282272,"version":"4.0.1"},"reference-count":52,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2009,8,21]],"date-time":"2009-08-21T00:00:00Z","timestamp":1250812800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1000615","type":"journal-article","created":{"date-parts":[[2009,8,20]],"date-time":"2009-08-20T21:20:13Z","timestamp":1250803213000},"page":"e1000615","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":60,"title":["Phosphofructo-1-Kinase Deficiency Leads to a Severe Cardiac and Hematological Disorder in Addition to Skeletal Muscle Glycogenosis"],"prefix":"10.1371","volume":"5","author":[{"given":"Miguel","family":"Garc\u00eda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pujol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Ruzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efr\u00e9n","family":"Riu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Ruberte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Arb\u00f3s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Seraf\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Albella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Emilio","family":"Fel\u00edu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F\u00e1tima","family":"Bosch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2009,8,21]]},"reference":[{"key":"ref1","first-page":"119","article-title":"Isozymes of phosphofructokinase.","volume":"6","author":"S Vora","year":"1982","journal-title":"Isozymes Curr Top Biol Med Res"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1073\/pnas.77.1.62","article-title":"Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.","volume":"77","author":"S Vora","year":"1980","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1042\/bj2420667","article-title":"Nature of the subunits of the 6-phosphofructo-1-kinase isoenzymes from rat tissues.","volume":"242","author":"GA Dunaway","year":"1987","journal-title":"Biochem J"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/0006-291X(65)90156-7","article-title":"Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis.","volume":"19","author":"S Tarui","year":"1965","journal-title":"Biochem Biophys Res Commun"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.1380060102","article-title":"Mutations in muscle phosphofructokinase gene.","volume":"6","author":"N Raben","year":"1995","journal-title":"Hum Mutat"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1212\/WNL.36.11.1465","article-title":"Fatal infantile form of muscle phosphofructokinase deficiency.","volume":"36","author":"S Servidei","year":"1986","journal-title":"Neurology"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/mus.880150406","article-title":"Fatal Familial Infantile Glycogen-Storage-Disease - Multisystem Phosphofructokinase Deficiency.","volume":"15","author":"R Amit","year":"1992","journal-title":"Muscle & Nerve"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/S0140-6736(97)02295-2","article-title":"Angina for 14 years.","volume":"349","author":"C Stollberger","year":"1997","journal-title":"Lancet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1182\/blood.V65.2.345.345","article-title":"Inherited phosphofructokinase deficiency in dogs with hyperventilation-induced hemolysis: increased in vitro and in vivo alkaline fragility of erythrocytes.","volume":"65","author":"U Giger","year":"1985","journal-title":"Blood"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.2460\/javma.1992.201.10.1569","article-title":"Inherited phosphofructokinase deficiency in an American cocker spaniel.","volume":"201","author":"U Giger","year":"1992","journal-title":"J Am Vet Med Assoc"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"8109","DOI":"10.1073\/pnas.82.23.8109","article-title":"Characterization of the enzymatic lesion in inherited phosphofructokinase deficiency in the dog: an animal analogue of human glycogen storage disease type VII.","volume":"82","author":"S Vora","year":"1985","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/0022-510X(96)00131-1","article-title":"Muscle phosphofructokinase deficiency in two generations.","volume":"141","author":"M Vorgerd","year":"1996","journal-title":"J Neurol Sci"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1046\/j.1365-2796.2001.00780.x","article-title":"Familial phosphofructokinase deficiency is associated with a disturbed calcium homeostasis in erythrocytes.","volume":"249","author":"G Ronquist","year":"2001","journal-title":"J Intern Med"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"197","DOI":"10.2174\/1566524024605734","article-title":"Phosphofructokinase deficiency; past, present and future.","volume":"2","author":"H Nakajima","year":"2002","journal-title":"Curr Mol Med"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/(SICI)1097-4598(199905)22:5<621::AID-MUS11>3.0.CO;2-D","article-title":"In vivo determination of altered hemoglobin saturation in dogs with M-type phosphofructokinase deficiency.","volume":"22","author":"K McCully","year":"1999","journal-title":"Muscle Nerve"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/nature06613","article-title":"HIF-independent regulation of VEGF and angiogenesis by the transcriptional coactivator PGC-1alpha.","volume":"451","author":"Z Arany","year":"2008","journal-title":"Nature"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1096\/fasebj.11.7.9212078","article-title":"The role of glucose 6-phosphate in the control of glycogen synthase.","volume":"11","author":"C Villar-Palasi","year":"1997","journal-title":"FASEB J"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1152\/jappl.1991.70.3.1201","article-title":"Abnormal high-energy phosphate metabolism in human muscle phosphofructokinase deficiency.","volume":"70","author":"LA Bertocci","year":"1991","journal-title":"J Appl Physiol"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ana.410220112","article-title":"Muscle energy metabolism in human phosphofructokinase deficiency as recorded by 31P nuclear magnetic resonance spectroscopy.","volume":"22","author":"Z Argov","year":"1987","journal-title":"Ann Neurol"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"189","DOI":"10.2174\/1566524024605770","article-title":"Myophosphorylase deficiency (glycogenosis type V; McArdle disease).","volume":"2","author":"S Dimaur","year":"2002","journal-title":"Curr Mol Med"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1001\/archneur.59.9.1395","article-title":"Spontaneous \u201csecond wind\u201d and glucose-induced second \u201csecond wind\u201d in McArdle disease: oxidative mechanisms.","volume":"59","author":"RG Haller","year":"2002","journal-title":"Arch Neurol"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1056\/NEJM199102073240603","article-title":"Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency.","volume":"324","author":"RG Haller","year":"1991","journal-title":"N Engl J Med"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"E347","DOI":"10.1152\/ajpendo.00434.2003","article-title":"UCP-mediated energy depletion in skeletal muscle increases glucose transport despite lipid accumulation and mitochondrial dysfunction.","volume":"286","author":"DH Han","year":"2004","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/ng0797-226","article-title":"A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart\/muscle isoform of the adenine nucleotide translocator.","volume":"16","author":"BH Graham","year":"1997","journal-title":"Nat Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"3431","DOI":"10.1096\/fj.07-8527rev","article-title":"Fuel economy in food-deprived skeletal muscle: signaling pathways and regulatory mechanisms.","volume":"21","author":"P de Lange","year":"2007","journal-title":"FASEB J"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"e294","DOI":"10.1371\/journal.pbio.0020294","article-title":"Regulation of muscle fiber type and running endurance by PPARdelta.","volume":"2","author":"YX Wang","year":"2004","journal-title":"PLoS Biol"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1152\/advan.00052.2006","article-title":"PGC-1alpha: a key regulator of energy metabolism.","volume":"30","author":"H Liang","year":"2006","journal-title":"Adv Physiol Educ"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"36642","DOI":"10.1074\/jbc.M707006200","article-title":"A role for the transcriptional coactivator PGC-1alpha in muscle refueling.","volume":"282","author":"AR Wende","year":"2007","journal-title":"J Biol Chem"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1046\/j.1365-201x.2000.00717.x","article-title":"Anaplerosis of the citric acid cycle: role in energy metabolism of heart and skeletal muscle.","volume":"168","author":"MJ Gibala","year":"2000","journal-title":"Acta Physiol Scand"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"30409","DOI":"10.1074\/jbc.R200006200","article-title":"The key role of anaplerosis and cataplerosis for citric acid cycle function.","volume":"277","author":"OE Owen","year":"2002","journal-title":"J Biol Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"32844","DOI":"10.1074\/jbc.M706127200","article-title":"Overexpression of the cytosolic form of phosphoenolpyruvate carboxykinase (GTP) in skeletal muscle repatterns energy metabolism in the mouse.","volume":"282","author":"P Hakimi","year":"2007","journal-title":"J Biol Chem"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1172\/JCI111164","article-title":"Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.","volume":"72","author":"S Vora","year":"1983","journal-title":"J Clin Invest"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00277-004-1002-4","article-title":"Cardiovascular effects of splenomegaly and splenectomy in beta-thalassemia.","volume":"84","author":"A Aessopos","year":"2005","journal-title":"Ann Hematol"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"2741","DOI":"10.1182\/blood-2004-02-0703","article-title":"BMP4 and Madh5 regulate the erythroid response to acute anemia.","volume":"105","author":"LE Lenox","year":"2005","journal-title":"Blood"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"4323","DOI":"10.1182\/blood.V86.11.4323.bloodjournal86114323","article-title":"Pyruvate kinase deficiency of mice associated with nonspherocytic hemolytic anemia and cure of the anemia by marrow transplantation without host irradiation.","volume":"86","author":"M Morimoto","year":"1995","journal-title":"Blood"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/S0272-5231(21)00959-X","article-title":"Respiratory dysfunction in muscular dystrophy and other myopathies.","volume":"15","author":"DJ Lynn","year":"1994","journal-title":"Clin Chest Med"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1136\/jnnp.2005.078881","article-title":"Respiratory involvement in inherited primary muscle conditions.","volume":"77","author":"N Shahrizaila","year":"2006","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1177\/088307388900400305","article-title":"Fatal infantile muscle phosphorylase deficiency.","volume":"4","author":"JM Milstein","year":"1989","journal-title":"J Child Neurol"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1183\/09031936.05.00020005","article-title":"Respiratory insufficiency and limb muscle weakness in adults with Pompe&apos;s disease.","volume":"26","author":"N Pellegrini","year":"2005","journal-title":"Eur Respir J"},{"key":"ref40","first-page":"1105","article-title":"[Familial congenital muscular dystrophy caused by phosphofructokinase deficiency].","volume":"35","author":"P Guibaud","year":"1978","journal-title":"Arch Fr Pediatr"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1097\/00007611-200212000-00016","article-title":"Neurologic and cardiac progression of glycogenosis type VII over an eight-year period.","volume":"95","author":"J Finsterer","year":"2002","journal-title":"South Med J"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1146\/annurev.physiol.65.092101.142243","article-title":"Cardiac hypertrophy: the good, the bad, and the ugly.","volume":"65","author":"N Frey","year":"2003","journal-title":"Annu Rev Physiol"},{"key":"ref43","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0168-9525(03)00081-7","article-title":"Hypertrophic cardiomyopathy: a paradigm for myocardial energy depletion.","volume":"19","author":"H Ashrafian","year":"2003","journal-title":"Trends Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1172\/JCI7605","article-title":"Cardiac hypertrophy with preserved contractile function after selective deletion of GLUT4 from the heart.","volume":"104","author":"ED Abel","year":"1999","journal-title":"J Clin Invest"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR.","volume":"29","author":"MW Pfaffl","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"5576","DOI":"10.1016\/S0021-9258(18)50447-6","article-title":"Inactivation of phosphofructokinase by glucagon in rat hepatocytes.","volume":"254","author":"JG Castano","year":"1979","journal-title":"J Biol Chem"},{"key":"ref47","first-page":"11","article-title":"Glycogen.","author":"D Keppler","year":"1981"},{"key":"ref48","first-page":"185","article-title":"Glucose 6-Phosphate.","author":"G Michal","year":"1981"},{"key":"ref49","first-page":"543","article-title":"ATP determination with hexokinase and glucose-6-phosphate dehidrogenase.","author":"M Lambrecht","year":"1965"},{"key":"ref50","first-page":"573","article-title":"Determination of adenosine-5\u2032 -diphosphate and adenosine-5\u2032 -monophosphate.","author":"H Adam","year":"1965"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1177\/5.4.420","article-title":"Cytochemical demonstration of succinic dehydrogenase by the use of a new p-nitrophenyl substituted ditetrazole.","volume":"5","author":"MM Nachlas","year":"1957","journal-title":"J Histochem Cytochem"},{"key":"ref52","article-title":"Muscle biopsy\u2014a modern approach","author":"V Dubowitz","year":"1973"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1000615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T20:19:56Z","timestamp":1739305196000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1000615"}},"subtitle":[],"editor":[{"given":"Marshall S.","family":"Horwitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2009,8,21]]},"references-count":52,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2009,8,21]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1000615","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,8,21]]}}}