Johannes A Mayr

Summary

Affiliation: Paracelsus Private Medical University
Country: Austria

Publications

  1. ncbi request reprint Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase
    Johannes A Mayr
    Department of Pediatrics, General Hospital Salzburg, Austria
    Pediatr Res 55:988-94. 2004
  2. pmc Spectrum of combined respiratory chain defects
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 38:629-40. 2015
  3. doi request reprint Lipid metabolism in mitochondrial membranes
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 38:137-44. 2015
  4. pmc Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
    Alireza Haghighi
    Department of Genetics, Harvard Medical School, 77 Ave Louis Pasteur, Boston 02115, MA, USA
    Orphanet J Rare Dis 9:119. 2014
  5. doi request reprint Lipoic acid biosynthesis defects
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 37:553-63. 2014
  6. pmc Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency
    Alena Cízková
    Center for Applied Genomics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    BMC Genomics 9:38. 2008
  7. doi request reprint Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Mullner Hauptstrasse 48, Salzburg, Austria
    Neuromuscul Disord 21:803-8. 2011
  8. pmc Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
    Am J Hum Genet 89:806-12. 2011
  9. pmc Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria
    Am J Hum Genet 89:792-7. 2011
  10. doi request reprint Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    Mol Genet Metab 103:358-61. 2011

Collaborators

Detail Information

Publications42

  1. ncbi request reprint Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase
    Johannes A Mayr
    Department of Pediatrics, General Hospital Salzburg, Austria
    Pediatr Res 55:988-94. 2004
    ..Absence of any mutations in mitochondrial ATP6 and ATP8 genes indicates a nuclear origin of the defect...
  2. pmc Spectrum of combined respiratory chain defects
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 38:629-40. 2015
    ..They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome in a subset of disorders...
  3. doi request reprint Lipid metabolism in mitochondrial membranes
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 38:137-44. 2015
    ..Since a growing number of enzymes and transport processes are recognised as parts of the mitochondrial lipid metabolism, a further increase of lipid-related disorders can be expected. ..
  4. pmc Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
    Alireza Haghighi
    Department of Genetics, Harvard Medical School, 77 Ave Louis Pasteur, Boston 02115, MA, USA
    Orphanet J Rare Dis 9:119. 2014
    ..Mutations in the acylglycerol kinase (AGK) gene have been recently described as the cause of Sengers syndrome in nine families...
  5. doi request reprint Lipoic acid biosynthesis defects
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 37:553-63. 2014
    ..As in DLD deficiency, a broader clinical spectrum can be anticipated for lipoate synthesis defects depending on which of the affected enzymes is most rate limiting. ..
  6. pmc Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency
    Alena Cízková
    Center for Applied Genomics, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    BMC Genomics 9:38. 2008
    ....
  7. doi request reprint Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Mullner Hauptstrasse 48, Salzburg, Austria
    Neuromuscul Disord 21:803-8. 2011
    ..We identified a homozygous mutation c.158-9A>G located in the 5'-intron next to exon 3A specific for heart and skeletal muscle. This creates a novel splice site resulting in a more than 95% decrease of the wild type allele...
  8. pmc Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
    Am J Hum Genet 89:806-12. 2011
    ..A reduced concentration of TPP was found in the muscle and blood. Mutation analysis of TPK1 uncovered three missense, one splice-site, and one frameshift mutation resulting in decreased TPK protein levels...
  9. pmc Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg 5020, Austria
    Am J Hum Genet 89:792-7. 2011
    ..Investigation of the mitochondrial energy metabolism showed reduced oxidation of pyruvate and decreased pyruvate dehydrogenase complex activity. A pronounced reduction of the prosthetic group lipoamide was found in lipoylated proteins...
  10. doi request reprint Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    Mol Genet Metab 103:358-61. 2011
    ..Investigation of the X-inactivation pattern demonstrated that 74% of the paternally inherited allele was active in the muscle. This is the first report of an X-chromosomally inherited respiratory chain defect in a heterozygous female...
  11. pmc Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Private Medical University, Salzburg, Austria
    Am J Hum Genet 80:478-84. 2007
    ..The enzyme defect was confirmed by complementation analysis in yeast. This is the first report of patients with mitochondrial phosphate-carrier deficiency...
  12. ncbi request reprint A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance
    Johannes A Mayr
    University Children s Hospital, Paracelsus Private Medical University, Mullner Hauptstr 48, A 5020 Salzburg, Austria
    Neuromuscul Disord 16:874-7. 2006
    ..Our patient presented with a predominantly myopathic phenotype. The G14739A mutation is the third reported in the mitochondrial tRNA glutamic acid gene, and it occurred in a sporadic case...
  13. ncbi request reprint Alterations of respiratory chain complexes in sporadic pheochromocytoma
    Rene G Feichtinger
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    Front Biosci (Elite Ed) 3:194-200. 2011
    ..Strikingly, one of the nine PCs showed specific loss of complex I and a compensatory up-regulation of complexes II-V, which is a phenotype usually characteristic of oncocytic tumors...
  14. pmc Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma
    Rene G Feichtinger
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    BMC Cancer 10:149. 2010
    ..Succinate dehydrogenase (SDH) has been associated with carcinogenesis in pheochromocytoma and paraganglioma. In the present study we investigated components of the oxidative phosphorylation system in human neuroblastoma tissue samples...
  15. doi request reprint Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA
    Edith E Mueller
    Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Salzburg, Austria
    Biochem Biophys Res Commun 417:1052-7. 2012
    ..This finding indicates the existence of a feedback mechanism in ρ(0) cells that downregulates the expression of entirely nuclear encoded components of mitochondrial energy metabolism...
  16. ncbi request reprint Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor
    Rene G Feichtinger
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    Front Biosci (Elite Ed) 3:187-93. 2011
    ..Interestingly, our studies show that, even within a specific tumor entity, cell-type-specific alterations of aerobic energy metabolism can occur, although all cell types showed a clear tendency toward a reduced aerobic energy metabolism...
  17. ncbi request reprint Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors
    Franz A Zimmermann
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    Front Biosci (Elite Ed) 3:315-25. 2011
    ..Therefore, complex I of the respiratory chain has to be added to the growing list of mitochondrial tumor suppressors...
  18. ncbi request reprint Loss of mitochondria in ganglioneuromas
    Rene G Feichtinger
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    Front Biosci (Elite Ed) 3:179-86. 2011
    ..Knowledge of the mechanism by which tumor cells achieve the Warburg effect will provide a starting point for functional studies aimed at restoring aerobic energy metabolism as a potential new therapeutic strategy to treat malignancies...
  19. pmc Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians
    Sabine Ebner
    Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    PLoS ONE 6:e27192. 2011
    ....
  20. pmc Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells
    Edith E Mueller
    Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    PLoS ONE 7:e52367. 2012
    ..However, justifications for the assumption that haplogroups are functionally distinct are rare. Therefore, we attempted to compare differences in mitochondrial function between haplogroup H and T cybrids...
  21. doi request reprint Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma
    Johannes A Mayr
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    Clin Cancer Res 14:2270-5. 2008
    ....
  22. pmc Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study
    Barbara Kofler
    Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
    BMC Med Genet 10:35. 2009
    ..We therefore examined the association between mtDNA haplogroups and coronary artery disease (CAD) as well as diabetic retinopathy...
  23. ncbi request reprint Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma
    David Meierhofer
    Department of Pediatrics, Paracelsus Private Medical University Salzburg, Muellner Hauptstr 48, A 5020 Salzburg, Austria
    Carcinogenesis 25:1005-10. 2004
    ....
  24. doi request reprint Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
    Johannes Koch
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
    J Med Genet 53:270-8. 2016
    ..Here we investigated three new patients from two families with pathogenic mutations in MFF...
  25. doi request reprint The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
    Wolfgang Sperl
    Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria
    J Inherit Metab Dis 38:391-403. 2015
    ..PDHC kinase inhibition, chaperone therapy and PGC1α stimulation is still a matter of further investigations. ..
  26. pmc Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype
    Johannes Koch
    Department of Pediatrics, Paracelsus Medical University Salzburg, Muellner Hauptstr 48, 5020, Salzburg, Austria
    Orphanet J Rare Dis 10:40. 2015
    ..TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far...
  27. pmc Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study
    Edith E Mueller
    Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    PLoS ONE 7:e30874. 2012
    ..Previous studies from Australia and the United States detected associations of mitochondrial haplogroups with AMD. The aim of the present study was to test these associations in Middle European Caucasians...
  28. pmc Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome
    Johannes A Mayr
    Department of Paediatrics, Paracelsus Medical University Salzburg, Austria
    Am J Hum Genet 90:314-20. 2012
    ....
  29. doi request reprint A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    Neuropediatrics 43:130-4. 2012
    ..We recommend to revisit patients who are clinically suspicious for a mitochondrial disorder especially for hidden PDHA1 mutations, such as large deletions...
  30. pmc Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians
    Edith E Mueller
    Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria
    PLoS ONE 4:e6370. 2009
    ....
  31. doi request reprint Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University, Salzburg A5020, Austria
    Hum Mol Genet 19:3430-9. 2010
    ..Furthermore, the epsilon subunit seems to be involved in the incorporation of subunit c to the rotor structure of the mammalian enzyme...
  32. pmc The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations
    Edith E Mueller
    Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    PLoS ONE 6:e16455. 2011
    ....
  33. doi request reprint Deficiency of respiratory chain complex I in Hashimoto thyroiditis
    Franz A Zimmermann
    Department of Pediatrics, Paracelsus Medical University, Müllner Hauptstraße 48, A 5020 Salzburg, Austria Research Program for Receptor Biochemistry and Tumor Metabolism, Paracelsus Medical University, Müllner Hauptstraße 48, A 5020 Salzburg, Austria Electronic address
    Mitochondrion 26:1-6. 2016
    ..In addition to isolated complex I deficiency, 25% of oncocytic lesions showed combined deficiency of complex I and IV. Thus, we demonstrate for the first time a defect of respiratory chain complex I in OCs of HT patients. ..
  34. ncbi request reprint Severe depletion of mitochondrial DNA in spinal muscular atrophy
    Alexandra Berger
    Department of Pediatrics, General Hospital Salzburg, Muellner Hauptstrasse 48, Austria
    Acta Neuropathol 105:245-51. 2003
    ....
  35. ncbi request reprint Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations
    David Meierhofer
    Department of Paediatrics, Paracelsus Private Medical University Salzburg, Muellner Hauptstr 48, A 5020 Salzburg, Austria
    Mitochondrion 5:282-96. 2005
    ..In order to demonstrate that the method has diagnostic value, we analyzed and confirmed known mtDNA mutations in patient samples...
  36. ncbi request reprint Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups
    Martina Wiesbauer
    Department of Paediatrics, Paracelsus Private Medical University Salzburg, Salzburg, Austria
    Electrophoresis 27:3864-8. 2006
    ..Our method may be suitable for mitochondrial genotyping of samples from large-scale epidemiology studies and for identifying markers of genetic susceptibility...
  37. pmc Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors
    Rene G Feichtinger
    Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria R G F, F A Z, B K Laboratory of Neuropathology, Department of Pathology and Neuropathology, State Neuropsychiatric Hospital Wagner Jauregg, Medical School, Johannes Kepler University, Linz, Austria S W Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria J A M, W S Department of Ophthalmology, Paracelsus Medical University, Salzburg, Austria B B
    Neuro Oncol 18:184-94. 2016
    ..We investigated mitochondrial energy metabolism in meningiomas and peripheral nerve sheath tumors, taking into consideration the histologic heterogeneity of these tumors...
  38. doi request reprint A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy
    Birgit Acham-Roschitz
    Department of Pediatrics, Medical University Graz, Graz, Austria
    Mol Genet Metab 98:300-4. 2009
    ..Genetic analysis revealed a novel mutation c.368T>C (p.Phe123Ser) in the RRM2B gene in the expressed maternal allele. The paternal allele was present in genomic DNA, but was not expressed as mature mRNA...
  39. doi request reprint CAD mutations and uridine-responsive epileptic encephalopathy
    Johannes Koch
    Department of Pediatrics, Salzburger Landeskliniken SALK and Paracelsus Medical University PMU, Salzburg, Austria
    Brain . 2016
    ....
  40. doi request reprint Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups
    Rene G Feichtinger
    Laura Bassi Centre of Expertise THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    Neuropeptides . 2016
    ..In addition, administration of α-MSH suppressed citrate synthase and OXPHOS activities independent of age. These findings suggest that α-MSH exposure may inhibit mitochondrial biogenesis...
  41. pmc Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
    Martina Huemer
    Department of Pediatrics, Landeskrankenhaus Bregenz, Carl Pedenz Str 2, 6900, Bregenz, Austria
    J Inherit Metab Dis 38:905-14. 2015
    ..Establishment of the diagnosis permits genetic counselling, prevents patients undergoing unhelpful diagnostic procedures and allows for accurate prognosis...
  42. ncbi request reprint Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene
    Rita Horvath
    Metabolic Diseases Centre, Munich Schwabing, Institutes of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Academic Hospital Schwabing Munich, Germany
    Brain 129:1674-84. 2006
    ..1399G-->A (A467T) is common in children, but complete POLG1 sequencing is required to identify multiple mutations that can have complex implications for genetic counselling...