A Holzinger

Summary

Affiliation: University of Munich
Country: Germany

Publications

  1. ncbi request reprint Primary structure of human PMP69, a putative peroxisomal ABC-transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Department of Clinical Chemistry and Biochemistry, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 237:152-7. 1997
  2. pmc Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency
    Andreas Holzinger
    Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Am J Hum Genet 70:20-5. 2002
  3. ncbi request reprint Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
    A Holzinger
    Ludwig Maximilians University, Dr von Hauner Children s Hospital, Department of Clinical Chemistry and Biochemical Genetics, Lindwurmstrasse 4, D 80337 Munich, Germany
    Hum Mol Genet 10:1299-306. 2001
  4. ncbi request reprint Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy
    A Holzinger
    Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Lindwurmstrasse 4, 80337, Germany
    Biochem Biophys Res Commun 258:436-42. 1999
  5. ncbi request reprint The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies
    A Holzinger
    Dr von Hauner Children s Hospital, Ludwig Maximilian University, Department of Pediatrics, Munich, Germany
    FEBS Lett 433:179-83. 1998
  6. ncbi request reprint Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Department of Pediatrics, Munich, Germany
    FEBS Lett 426:238-42. 1998
  7. ncbi request reprint cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 239:261-4. 1997
  8. ncbi request reprint The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes
    A C Muntau
    Dr von Hauner Children s Hospital, Laboratory of Molecular Biology, Ludwig Maximilians University, Lindwurmstrasse 4, Munich, 80337, Germany
    Biochem Biophys Res Commun 268:704-10. 2000
  9. ncbi request reprint Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p
    S Kammerer
    Dr von Hauner Children s Hospital, Department of Clinical Chemistry and Biochemistry, Ludwig Maximilian University of Munich, Germany
    FEBS Lett 429:53-60. 1998
  10. ncbi request reprint Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters
    P Roerig
    Zentrum fur Kinderheilkunde, Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    FEBS Lett 492:66-72. 2001

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Primary structure of human PMP69, a putative peroxisomal ABC-transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Department of Clinical Chemistry and Biochemistry, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 237:152-7. 1997
    ..PMP69 might be a heterodimer partner for one of these proteins, thus playing a role in modifying the clinical course of ALD or, alternatively, in peroxisome biogenesis...
  2. pmc Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency
    Andreas Holzinger
    Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Am J Hum Genet 70:20-5. 2002
    ..These data provide first evidence that proenteropeptidase-gene mutations are the primary cause of congenital enteropeptidase deficiency...
  3. ncbi request reprint Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
    A Holzinger
    Ludwig Maximilians University, Dr von Hauner Children s Hospital, Department of Clinical Chemistry and Biochemical Genetics, Lindwurmstrasse 4, D 80337 Munich, Germany
    Hum Mol Genet 10:1299-306. 2001
    ..Mutations were correlated with an almost total lack of enzyme activity in fibroblasts. These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene...
  4. ncbi request reprint Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy
    A Holzinger
    Department of Pediatrics, Division of Clinical Chemistry and Metabolism, Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Lindwurmstrasse 4, 80337, Germany
    Biochem Biophys Res Commun 258:436-42. 1999
    ..Our data will enable sequence analysis in X-ALD patients to determine a possible role of ALDRP as a modifier and provide tools for the study of therapeutic ALDRP induction...
  5. ncbi request reprint The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studies
    A Holzinger
    Dr von Hauner Children s Hospital, Ludwig Maximilian University, Department of Pediatrics, Munich, Germany
    FEBS Lett 433:179-83. 1998
    ..The data presented will be particularly useful for the generation of a mouse model defective in PXMP1-L in order to elucidate the yet unknown function of this protein...
  6. ncbi request reprint Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Department of Pediatrics, Munich, Germany
    FEBS Lett 426:238-42. 1998
    ..The data presented will enable sequence analysis of the PXMP1-L gene in X-ALD patients and facilitate the analysis of PXMP1-L function...
  7. ncbi request reprint cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter
    A Holzinger
    Dr V Hauner Children s Hospital, Ludwig Maximilian University, Munich, Germany
    Biochem Biophys Res Commun 239:261-4. 1997
    ..ALDRP is a potential dimerization partner of ALDP or other peroxisomal ABC-transporters. The ALDR gene is a candidate for a modifier gene, accounting for the strikingly varying clinical courses of ALD observed even within a family...
  8. ncbi request reprint The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypes
    A C Muntau
    Dr von Hauner Children s Hospital, Laboratory of Molecular Biology, Ludwig Maximilians University, Lindwurmstrasse 4, Munich, 80337, Germany
    Biochem Biophys Res Commun 268:704-10. 2000
    ..PEX3 mutations were therefore excluded as the molecular basis of the peroxisomal defect in these complementation groups...
  9. ncbi request reprint Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p
    S Kammerer
    Dr von Hauner Children s Hospital, Department of Clinical Chemistry and Biochemistry, Ludwig Maximilian University of Munich, Germany
    FEBS Lett 429:53-60. 1998
    ..Since disruption of human peroxins has been shown to result in peroxisomal biogenesis disorders, PEX3 is another candidate gene being involved in this disease group...
  10. ncbi request reprint Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters
    P Roerig
    Zentrum fur Kinderheilkunde, Department of Pediatrics, Heinrich Heine University, Dusseldorf, Germany
    FEBS Lett 492:66-72. 2001
    ..The study provides evidence that peroxisomal ABC transporters utilize ATP to become a functional transporter...
  11. ncbi request reprint Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene
    A Holzinger
    Dr V Hauner Children s Hospital, Department of Clinical Chemistry and Metabolism, Ludwig Maximilian University, Munich, Germany
    Clin Genet 53:482-7. 1998
    ..If the Q672X mutation leads in fact to an unstable translation product this would be consistent with the hypothesis that the C-terminus is crucial for ALDP stability...
  12. doi request reprint [Malassezia furfur colonising the respiratory tract of mechanically ventilated neonates]
    A W Flemmer
    Neonatologie der Kinderklinik am Perinatalzentrum Grosshadern, Ludwig Maximilian Universitat Munchen
    Z Geburtshilfe Neonatol 212:22-6. 2008
    ..However, fungal colonisation and infection of the lung have not been studied systematically. The purpose of this study was to evaluate pulmonary fungal colonisation in ventilated neonates and premature infants...
  13. doi request reprint Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents
    M Hammel
    Dr von Haunersches Kinderspital, Ludwig Maximilian University, Munich, Germany
    Klin Padiatr 221:286-9. 2009
    ..Most cases of CCHS are caused by de novo heterozygous in-frame expansions within in the PHOX2b gene...
  14. doi request reprint Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation
    A Holzinger
    Division of Neonatology, Dr von Hauner Children s Hospital, Ludwig Maximilians University Munich, Germany
    Klin Padiatr 220:287-90. 2008
    ..Extreme hyponatremia (<105 mmol/l) has rarely been reported in infants. It is potentially life-threatening and requires intensive care treatment...
  15. ncbi request reprint Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase
    Sonja C Stadler
    Dr von Hauner Children s Hospital, Department of Biochemical Genetics and Molecular Biology, Ludwig Maximilians University, Munich, Germany
    Biochem Biophys Res Commun 334:939-46. 2005
    ..Structural requirements for mitochondrial import were defined by site-directed mutagenesis. Our studies provide the prerequisite to understand the impact of specific mutations on the clinical phenotype of MCC deficiency...
  16. ncbi request reprint Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes. A first case report
    Andreas Holzinger
    Dr von Hauner Children s Hospital, Ludwig Maximilians University Munich, Germany
    Biol Neonate 89:88-91. 2006
    ..We conclude that long-term MSGM is feasible and may reduce painful blood sampling and blood loss in NDM. Furthermore, long-term MSGM may hold a potential for avoiding hypoglycemic episodes and earlier discharge...
  17. ncbi request reprint Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motif
    Pablo Landgraf
    Dr von Hauner Children s Hospital, Department of Clinical Chemistry, Laboratory of Molecular Biology, Ludwig Maximilians University Munich, Munich, Germany
    Eur J Cell Biol 82:401-10. 2003
    ..Our data define the targeting region of human adrenoleukodystrophy protein containing a highly conserved 14-amino-acid motif...
  18. ncbi request reprint Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy
    Andreas Holzinger
    Dr von Hauner Children s Hospital, Ludwig Maximilians University Munich, Lindwurmstrasse 4, 80447 Munich, Germany
    Adv Exp Med Biol 544:95-6. 2003
  19. ncbi request reprint Effects of duration and amount of lung stretch at biophysical, biochemical, histological, and transcriptional levels in an in vivo rabbit model of mild lung injury
    George Simbruner
    Department of Neonatology, Medical University Innsbruck, Innsbruck, Austria
    Am J Perinatol 24:149-59. 2007
    ..Not only doubling V T, but also doubling Freq at normal V T injures the lung significantly, although to a lesser extent. A concept of weighted risk for increases of V T and Freq is proposed...
  20. ncbi request reprint Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies
    Markus Hammel
    Dr von Hauner Children s Hospital, Ludwig Maximilians University Munich, Lindwurmstrasse 4, 80337 Munich, Germany
    Biochem Biophys Res Commun 359:947-51. 2007
    ..The phenotype of respiratory failure immediately after birth corresponds to the clinical course of severe ABCA3 mutations in human newborns...