Publications by authors named "Johannes A Mayr"

100Publications

The switch in the diagnosis of mitochondrial diseases from the classical 'function first' to the NGS-based 'genetics first' diagnostic era.

J Mother Child 2020 Oct 2;24(2):47-52. Epub 2020 Oct 2.

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

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http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000008DOI Listing
October 2020

Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.

Neuropediatrics 2020 Oct 21. Epub 2020 Oct 21.

Department of Neuropediatrics and Muscle Disorders, University Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1055/s-0040-1715631DOI Listing
October 2020

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Genet Med 2020 Oct 7. Epub 2020 Oct 7.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, Department of Pediatrics and Adolescent Medicine, University Medical Center, Göttingen, Germany.

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http://dx.doi.org/10.1038/s41436-020-00979-wDOI Listing
October 2020

Age-Related Deterioration of Mitochondrial Function in the Intestine.

Oxid Med Cell Longev 2020 18;2020:4898217. Epub 2020 Aug 18.

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

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http://dx.doi.org/10.1155/2020/4898217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453234PMC
August 2020

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches.

Eur J Med Genet 2020 Nov 26;63(11):104046. Epub 2020 Aug 26.

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany; Centre for Rare Diseases, University of Tuebingen, Tübingen, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2020.104046DOI Listing
November 2020

Serine Catabolism Feeds NADH when Respiration Is Impaired.

Cell Metab 2020 Apr 17;31(4):809-821.e6. Epub 2020 Mar 17.

Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ 08544, USA; Department of Chemistry, Princeton University, Princeton, NJ 08544, USA; Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2020.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7397714PMC
April 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975175PMC
February 2020

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Am J Hum Genet 2020 02 30;106(2):256-263. Epub 2020 Jan 30.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7010975PMC
February 2020

Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.

Am J Hum Genet 2020 01 26;106(1):102-111. Epub 2019 Dec 26.

Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: Department of Neuropediatrics, 13353 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.12.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042493PMC
January 2020

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

Cells 2019 09 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6829531PMC
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

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

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

J Inherit Metab Dis 2019 03 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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