Johannes A Mayr

Johannes A Mayr

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Johannes A Mayr

Johannes A Mayr

Publications by authors named "Johannes A Mayr"

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Mutations in Cause Metabolic Reprogramming and Disruption of the Electron Transfer.

Cells 2019 Sep 25;8(10). Epub 2019 Sep 25.

Mass Spectrometry Facility, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.

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http://dx.doi.org/10.3390/cells8101149DOI Listing
September 2019

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in -Related Diseases.

J Clin Med 2019 07 8;8(7). Epub 2019 Jul 8.

MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/jcm8070991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679130PMC
July 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Choline-related-inherited metabolic diseases-A mini review.

J Inherit Metab Dis 2019 Mar 25;42(2):237-242. Epub 2019 Jan 25.

University Childrens Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.

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http://doi.wiley.com/10.1002/jimd.12011
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http://dx.doi.org/10.1002/jimd.12011DOI Listing
March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.

Oxid Med Cell Longev 2018 14;2018:1347174. Epub 2018 Nov 14.

Division of Experimental Urology, Department of Urology, Medical University of Innsbruck, 6020 Innsbruck, Austria.

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http://dx.doi.org/10.1155/2018/1347174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261400PMC
January 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon).

Congenit Heart Dis 2018 Sep 21;13(5):671-677. Epub 2018 Aug 21.

Department of Child and Adolescent Health, Pediatrics I/III, Medical University of Innsbruck, Innsbruck, Austria.

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http://doi.wiley.com/10.1111/chd.12634
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http://dx.doi.org/10.1111/chd.12634DOI Listing
September 2018

Severe DGUOK Deficiency in Austria: A Six-Patient Series.

J Pediatr Gastroenterol Nutr 2018 Sep 18. Epub 2018 Sep 18.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.

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http://dx.doi.org/10.1097/MPG.0000000000002149DOI Listing
September 2018

Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma.

Cells 2018 May 9;7(5). Epub 2018 May 9.

Research Program for Receptor Biochemistry and Tumor Metabolism, University Hospital Salzburg, Paracelsus Medical University, Salzburg 5020, Austria.

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http://dx.doi.org/10.3390/cells7050040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5981264PMC
May 2018

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.

Oxid Med Cell Longev 2017 28;2017:1320241. Epub 2017 Jun 28.

Laura-Bassi Centre of Expertise, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.

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http://dx.doi.org/10.1155/2017/1320241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506471PMC
April 2018

Analysis of Mitochondrial RNA-Processing Defects in Patient-Derived Tissues by qRT-PCR and RNAseq.

Methods Mol Biol 2017 ;1567:379-390

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764, Neuherberg, Germany.

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http://dx.doi.org/10.1007/978-1-4939-6824-4_23DOI Listing
February 2018

Melanoma tumors exhibit a variable but distinct metabolic signature.

Exp Dermatol 2018 02 10;27(2):204-207. Epub 2018 Jan 10.

Laboratory for Pathology Weger, Emberger, Salzburg, Austria.

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http://dx.doi.org/10.1111/exd.13465DOI Listing
February 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups.

Neuropeptides 2017 Aug 26;64:123-130. Epub 2016 Aug 26.

Institute for Translational Medicine, Medical School, University of Pécs, Hungary.

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http://dx.doi.org/10.1016/j.npep.2016.08.009DOI Listing
August 2017

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Neuropediatrics 2017 08 9;48(4):309-314. Epub 2017 Jun 9.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://dx.doi.org/10.1055/s-0037-1603776DOI Listing
August 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain 2017 02 19;140(2):e11. Epub 2016 Dec 19.

Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1093/brain/aww303DOI Listing
February 2017

MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report.

Am J Kidney Dis 2016 Dec 24;68(6):949-953. Epub 2016 Sep 24.

Department of Internal Medicine III-Cardiology and Angiology, Medical University Innsbruck, Innsbruck, Austria.

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https://linkinghub.elsevier.com/retrieve/pii/S02726386163041
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http://dx.doi.org/10.1053/j.ajkd.2016.06.027DOI Listing
December 2016

Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.

J Med Genet 2016 Apr 18;53(4):270-8. Epub 2016 Jan 18.

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103500DOI Listing
April 2016

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.

Neuro Oncol 2016 Feb 23;18(2):184-94. Epub 2015 Jun 23.

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.).

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http://dx.doi.org/10.1093/neuonc/nov105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4724172PMC
February 2016

Deficiency of respiratory chain complex I in Hashimoto thyroiditis.

Mitochondrion 2016 Jan 7;26:1-6. Epub 2015 Nov 7.

Department of Pediatrics, Paracelsus Medical University, Müllner Hauptstraße 48, A-5020 Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2015.11.002DOI Listing
January 2016

The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.

Biochem Biophys Res Commun 2015 Aug 16;464(2):369-75. Epub 2015 Jun 16.

MitoCare Center, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.06.031DOI Listing
August 2015

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

J Inherit Metab Dis 2015 May 20;38(3):391-403. Epub 2014 Dec 20.

Department of Paediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9787-3DOI Listing
May 2015

From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.

Mitochondrion 2015 Mar 10;21:12-8. Epub 2015 Jan 10.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, Faculty of Medicine, Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1016/j.mito.2015.01.001DOI Listing
March 2015

Lipid metabolism in mitochondrial membranes.

Authors:
Johannes A Mayr

J Inherit Metab Dis 2015 Jan 1;38(1):137-44. Epub 2014 Aug 1.

Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9748-xDOI Listing
January 2015

HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.

Am J Med Genet A 2014 Dec 23;164A(12):3162-9. Epub 2014 Sep 23.

Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.36766DOI Listing
December 2014

Lipoic acid biosynthesis defects.

J Inherit Metab Dis 2014 Jul 29;37(4):553-63. Epub 2014 Apr 29.

Department of Paediatrics, Paracelsus Medical University Salzburg, Salzburg, 5020, Austria,

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http://dx.doi.org/10.1007/s10545-014-9705-8DOI Listing
July 2014

GAL3 receptor KO mice exhibit an anxiety-like phenotype.

Proc Natl Acad Sci U S A 2014 May 29;111(19):7138-43. Epub 2014 Apr 29.

Laura Bassi Centre of Expertise-Therapeutic Application of Neuropeptides (THERAPEP), Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, and

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http://www.pnas.org/cgi/doi/10.1073/pnas.1318066111
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http://dx.doi.org/10.1073/pnas.1318066111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4024886PMC
May 2014

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.

Croat Med J 2013 Dec;54(6):579-84

Nenad Barisic, University of Novi Sad, Faculty of Medicine, Institute for Child and Youth Health Care of Vojvodina, Hajduk Veljkova 10, 21000 Novi Sad, Serbia,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893987PMC
http://dx.doi.org/10.3325/cmj.2013.54.579DOI Listing
December 2013

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Am J Hum Genet 2013 Aug 11;93(2):211-23. Epub 2013 Jul 11.

Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1016/j.ajhg.2013.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738821PMC
August 2013

Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells.

PLoS One 2012 26;7(12):e52367. Epub 2012 Dec 26.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052367PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530588PMC
July 2013

Protein sets define disease states and predict in vivo effects of drug treatment.

Mol Cell Proteomics 2013 Jul 11;12(7):1965-79. Epub 2013 Apr 11.

Otto Warburg Laboratory, Max Planck Institute for Molecular Genetics, Berlin, Germany.

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http://dx.doi.org/10.1074/mcp.M112.025031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708179PMC
July 2013

MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.

JIMD Rep 2013 29;10:41-4. Epub 2012 Dec 29.

Department of Medicine II Gastroenterology and Hepatology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1007/8904_2012_199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755566PMC
May 2013

Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.

Biochem Biophys Res Commun 2012 Jan 26;417(3):1052-7. Epub 2011 Dec 26.

Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.bbrc.2011.12.093DOI Listing
January 2012

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

Neuromuscul Disord 2011 Nov 16;21(11):803-8. Epub 2011 Jul 16.

Department of Paediatrics, Paracelsus Medical University Salzburg, Müllner Hauptstrasse 48, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.nmd.2011.06.005DOI Listing
November 2011

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Mol Genet Metab 2011 Aug 5;103(4):358-61. Epub 2011 May 5.

Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.010DOI Listing
August 2011

Loss of mitochondria in ganglioneuromas.

Front Biosci (Elite Ed) 2011 Jan 1;3:179-86. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e231DOI Listing
January 2011

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor.

Front Biosci (Elite Ed) 2011 Jan 1;3:187-93. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e232DOI Listing
January 2011

Alterations of respiratory chain complexes in sporadic pheochromocytoma.

Front Biosci (Elite Ed) 2011 Jan 1;3:194-200. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e233DOI Listing
January 2011

Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors.

Front Biosci (Elite Ed) 2011 Jan 1;3:315-25. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.2741/e247DOI Listing
January 2011

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Hum Mol Genet 2010 Sep 21;19(17):3430-9. Epub 2010 Jun 21.

Department of Pediatrics, Paracelsus Medical University, Salzburg A5020, Austria.

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http://dx.doi.org/10.1093/hmg/ddq254DOI Listing
September 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma.

BMC Cancer 2010 Apr 19;10:149. Epub 2010 Apr 19.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1186/1471-2407-10-149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2861660PMC
April 2010