Fernando Climent

Summary

Affiliation: Universitat de Barcelona
Country: Spain

Publications

  1. ncbi 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. ncbi 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
  3. ncbi 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
  4. ncbi 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 Characterization of the first described mutation of human red blood cell phosphoglycerate mutase
    Pedro de Atauri
    , , Facultat de Medicina, , Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:403-10. 2005
  6. ncbi 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
  7. ncbi Red blood cell phosphosphoglycerate mutase. Description of the first human BB isoenzyme mutation
    Ada Repiso
    , , Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036-Barcelona, Spain
    Haematologica 88:ECR07. 2003
  8. ncbi Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation
    Ada Repiso
    , , Facultat de Medicina, , Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:467-71. 2005
  9. ncbi 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 Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain
    Ada Repiso
    , , Facultat de Medicina, , Universitat de Barcelona, Casanovas 143, 08036 Barcelona, Spain
    Haematologica 87:ECR12. 2002

Collaborators

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

Detail Information

Publications10

  1. ncbi 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. ncbi 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
    ....
  3. ncbi 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...
  4. ncbi 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 Characterization of the first described mutation of human red blood cell phosphoglycerate mutase
    Pedro de Atauri
    , , Facultat de Medicina, , 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 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...
  7. ncbi Red blood cell phosphosphoglycerate mutase. Description of the first human BB isoenzyme mutation
    Ada Repiso
    , , Facultat de Medicina, Universitat de Barcelona, Casanova 143, 08036-Barcelona, Spain
    Haematologica 88:ECR07. 2003
  8. ncbi Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation
    Ada Repiso
    , , Facultat de Medicina, , Universitat de Barcelona, Spain
    Biochim Biophys Acta 1740:467-71. 2005
    ....
  9. ncbi 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 Triosephosphate isomerase deficiency. genetic, enzymatic and metabolic characterization of a new case from Spain
    Ada Repiso
    , , Facultat de Medicina, , Universitat de Barcelona, Casanovas 143, 08036 Barcelona, Spain
    Haematologica 87:ECR12. 2002