Genomes and Genes
Affiliation: University of Munich
- Primary structure of human PMP69, a putative peroxisomal ABC-transporterA 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...
- Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiencyAndreas 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...
- Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiencyA 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...
- 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 adrenoleukodystrophyA 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...
- The mouse gene encoding the peroxisomal membrane protein 1-like protein (PXMP1-L): cDNA cloning, genomic organization and comparative expression studiesA 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...
- Genomic organization and chromosomal localization of the human peroxisomal membrane protein-1-like protein (PXMP1-L) gene encoding a peroxisomal ABC transporterA 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...
- cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporterA 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...
- The human PEX3 gene encoding a peroxisomal assembly protein: genomic organization, positional mapping, and mutation analysis in candidate phenotypesA 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...
- Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3pS 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...
- Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transportersP 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...
- Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy geneA 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...
- [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...
- Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parentsM Hammel
Dr von Haunersches Kinderspital, Ludwig Maximilian University, Munich, Germany
Klin Padiatr 221:286-9. 2009..Germline mosaicism may lead to CCHS in children from unaffected parents. Genetic counseling should include these variations...
- Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutationA 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...
- Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylaseSonja 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...
- Use of long-term microdialysis subcutaneous glucose monitoring in the management of neonatal diabetes. A first case reportAndreas 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...
- Targeting of the human adrenoleukodystrophy protein to the peroxisomal membrane by an internal region containing a highly conserved motifPablo 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...
- Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophyAndreas Holzinger
Dr. Von Hauner Children 's Hospital, Ludwig-Maximilians-University Munich, Lindwurmstrasse 4, 80447 Munich, Germany
Adv Exp Med Biol 544:95-6. 2003
- Effects of duration and amount of lung stretch at biophysical, biochemical, histological, and transcriptional levels in an in vivo rabbit model of mild lung injuryGeorge 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...
- Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodiesMarkus 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...