B Aral

Summary

Country: France

Publications

  1. pmc Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis
    B Aral
    Laboratoire de Biochimie Medicale B, CNRS, URA1335, Institut Necker, Hopital des Enfants Malades, Paris, France
    Am J Hum Genet 61:1318-26. 1997
  2. ncbi Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization
    G Liu
    Laboratoire de Biochimie Médicale B and Centre National de la Recherche Scientifique CNRS URA 1335, Hopital Necker Enfant Malades, Paris, France
    Genomics 37:145-6. 1996
  3. ncbi Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients
    P de Lonlay
    Departments of Pediatrics, , Paris, France
    Pediatr Res 50:353-7. 2001
  4. ncbi Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis
    B Aral
    Centre National de la Recherche Scientifique CNRS, Hopital Necker Enfants Malades, Paris, France
    C R Acad Sci III 319:171-8. 1996
  5. ncbi Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients
    B Aral
    Laboratoire de Biochimie Genetique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker Enfants Malades, Paris, France
    Hum Mutat 9:81-2. 1997
  6. ncbi Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
    M R Baumgartner
    Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Hum Mol Genet 9:2853-8. 2000

Collaborators

  • G Liu
  • P de Lonlay
  • P Kamoun
  • D Rabier
  • J M Saudubray
  • M R Baumgartner
  • C Benelli
  • G Touati
  • F Fouque
  • J J Robert
  • C Heinrichs
  • A Ganguly
  • C Stanley
  • C Dionisi-Vici
  • S Almashanu
  • C A Hu
  • D Valle
  • G Steel
  • C Obie

Detail Information

Publications6

  1. pmc Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis
    B Aral
    Laboratoire de Biochimie Medicale B, CNRS, URA1335, Institut Necker, Hopital des Enfants Malades, Paris, France
    Am J Hum Genet 61:1318-26. 1997
    ..3. Molecular investigation of PDX1 deficiency in four patients with neonatal lactic acidemias revealed mutations 78del85 and 965del59 in a homozygous state, and one other patient had no PDX1 mRNA expression...
  2. ncbi Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridization
    G Liu
    Laboratoire de Biochimie Médicale B and Centre National de la Recherche Scientifique CNRS URA 1335, Hopital Necker Enfant Malades, Paris, France
    Genomics 37:145-6. 1996
  3. ncbi Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients
    P de Lonlay
    Departments of Pediatrics, , Paris, France
    Pediatr Res 50:353-7. 2001
    ..No mutation has been found in one patient after sequencing the exons 5-13 of the gene...
  4. ncbi Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesis
    B Aral
    Centre National de la Recherche Scientifique CNRS, Hopital Necker Enfants Malades, Paris, France
    C R Acad Sci III 319:171-8. 1996
    ..The phenotypic features for deficiency of P5CS include joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low plasma levels of proline, citrulline and ornithine...
  5. ncbi Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients
    B Aral
    Laboratoire de Biochimie Genetique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker Enfants Malades, Paris, France
    Hum Mutat 9:81-2. 1997
  6. ncbi Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase
    M R Baumgartner
    Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
    Hum Mol Genet 9:2853-8. 2000
    ..This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease...