Fernando Climent

Summary

Affiliation: Universitat de Barcelona
Country: Spain

Publications

  1. ncbi request reprint Red cell glycolytic enzyme disorders caused by mutations: an update
    Fernando Climent
    Departament de Ciències Fisiològiques I, Unitat de Bioquimica, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain
    Cardiovasc Hematol Disord Drug Targets 9:95-106. 2009
  2. doi request reprint Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation
    María José Ramírez-Bajo
    Unitat de Bioquímica i Biologia Molecular, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Spain
    Blood Cells Mol Dis 46:206-11. 2011
  3. ncbi request reprint Effects of thyroid hormone and hypoxia on 2,3-bisphosphoglycerate, bisphosphoglycerate synthase and phosphoglycerate mutase in rabbit erythroblasts and reticulocytes in vivo
    Nuria Gonzalez-Cinca
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain
    Horm Res 62:191-6. 2004
  4. ncbi request reprint Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Hum Mutat 27:1159. 2006
  5. ncbi request reprint Characterization of the first described mutation of human red blood cell phosphoglycerate mutase
    Pedro de Atauri
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:403-10. 2005
  6. ncbi request reprint Red blood cell phosphosphoglycerate mutase. Description of the first human BB isoenzyme mutation
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain
    Haematologica 88:ECR07. 2003
  7. ncbi request reprint Effects of hypoxia and thyroid hormone on mRNA levels and activity of phosphoglycerate mutase in rabbit tissues
    Nuria Gonzalez-Cinca
    Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer, Facultat de Medicina, Universitat de Barcelona, Spain
    Horm Res 59:16-20. 2003
  8. ncbi request reprint Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:467-71. 2005
  9. ncbi request reprint Effects of thyroid hormone on mRNAs of phosphoglycerate mutase subunits in rat muscle during development
    Nuria Gonzalez-Cinca
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Facultat de Medicina, Universitat de Barcelona, Spain
    Horm Res 57:48-52. 2002
  10. ncbi request reprint Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Casanovas 143, 08036 Barcelona, Spain
    Haematologica 87:ECR12. 2002

Collaborators

  • Marta Cascante
  • ERNEST N BEUTLER
  • Ada Repiso
  • José Carreras
  • Nuria Gonzalez-Cinca
  • Baldomero Oliva
  • Pedro de Atauri
  • Joan Lluis Vives-Corrons
  • María José Ramírez-Bajo
  • Joan Lluis Vives Corrons
  • Pablo Perez de la Ossa
  • Elisenda Bañón-Maneus
  • Pablo Pérez de la Ossa
  • Josep Carreras
  • Jordi Junca
  • Francisca Rivera
  • Rafael Oliva
  • Estefania Garcia
  • Xavier Aviles
  • Joan L L Vives-Corrons
  • Sergio Gonzalo
  • Assumpció Pujades
  • Fernando Ortega
  • Joan Boren
  • Josep Centelles
  • Carlos Ascaso

Detail Information

Publications10

  1. ncbi request reprint Red cell glycolytic enzyme disorders caused by mutations: an update
    Fernando Climent
    Departament de Ciències Fisiològiques I, Unitat de Bioquimica, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain
    Cardiovasc Hematol Disord Drug Targets 9:95-106. 2009
    ..Understanding of the crystal structure of enzymes permits molecular modelling studies which, in turn, reveal how mutations can affect enzyme structure and function...
  2. doi request reprint Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation
    María José Ramírez-Bajo
    Unitat de Bioquímica i Biologia Molecular, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Spain
    Blood Cells Mol Dis 46:206-11. 2011
    ..The increase of 2,3-bisphosphoglycerate and the decrease of ATP RBC levels are the only detected metabolic changes that could cause hemolytic anemia...
  3. ncbi request reprint Effects of thyroid hormone and hypoxia on 2,3-bisphosphoglycerate, bisphosphoglycerate synthase and phosphoglycerate mutase in rabbit erythroblasts and reticulocytes in vivo
    Nuria Gonzalez-Cinca
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, Barcelona, Spain
    Horm Res 62:191-6. 2004
    ....
  4. ncbi request reprint Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Hum Mutat 27:1159. 2006
    ..341A>T (p.Asp113Val) in exon 4 and c.663T>G (p.Asn220Lys) in exon 7. Molecular modeling using the human crystal structure of GPI as a model was performed to determine how these mutations could affect enzyme structure and function...
  5. ncbi request reprint Characterization of the first described mutation of human red blood cell phosphoglycerate mutase
    Pedro de Atauri
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:403-10. 2005
    ..However, the implication of a change of the k(cat) produced by the mutation cannot be discarded, since we could not determine the k(cat) value of the mutated PGAM...
  6. ncbi request reprint Red blood cell phosphosphoglycerate mutase. Description of the first human BB isoenzyme mutation
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036 Barcelona, Spain
    Haematologica 88:ECR07. 2003
  7. ncbi request reprint Effects of hypoxia and thyroid hormone on mRNA levels and activity of phosphoglycerate mutase in rabbit tissues
    Nuria Gonzalez-Cinca
    Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer, Facultat de Medicina, Universitat de Barcelona, Spain
    Horm Res 59:16-20. 2003
    ..In the present work, we studied the effects of hypoxia and triiodothyronine (T(3)) on phosphoglycerate mutase (PGAM) activity and expression in rabbit liver, brain, and skeletal muscle under in vivo conditions...
  8. ncbi request reprint Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:467-71. 2005
    ....
  9. ncbi request reprint Effects of thyroid hormone on mRNAs of phosphoglycerate mutase subunits in rat muscle during development
    Nuria Gonzalez-Cinca
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Facultat de Medicina, Universitat de Barcelona, Spain
    Horm Res 57:48-52. 2002
    ..We previously showed that triiodothyronine (T3) stimulates muscle phosphoglycerate mutase (PGAM) activity and isozyme transition in rat skeletal and cardiac muscles...
  10. ncbi request reprint Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain
    Ada Repiso
    Unitat de Bioquimica, Departament de Ciències Fisiològiques I, Facultat de Medicina, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Universitat de Barcelona, Casanovas 143, 08036 Barcelona, Spain
    Haematologica 87:ECR12. 2002