Publications by authors named "Wolfgang Sperl"

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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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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August 2020

Unresponsive Wakefulness Syndrome in Children after Near-Drowning: Long-Term Outcome and Impact on the Families.

Neuropediatrics 2019 04 20;50(2):71-79. Epub 2018 Dec 20.

Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik, Vogtareuth, Germany.

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April 2019

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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May 2018

Mitochondrial translation requires folate-dependent tRNA methylation.

Nature 2018 02 24;554(7690):128-132. Epub 2018 Jan 24.

Lewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, New Jersey 08544, USA.

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February 2018

A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model.

Oncotarget 2017 Sep 8;8(39):64728-64744. Epub 2017 Aug 8.

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

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September 2017

The ketogenic diet is not feasible as a therapy in a CD-1 nu/nu mouse model of renal cell carcinoma with features of Stauffer's syndrome.

Oncotarget 2017 Aug 17;8(34):57201-57215. Epub 2017 Jul 17.

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

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August 2017

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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April 2018

Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.

Seizure 2017 Aug 15;50:118-120. Epub 2017 Jun 15.

Division of Clinical Genetics, Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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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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August 2017

Overview of Habilitation and Rehabilitation for Children and Adolescents in Europe.

J Pediatr 2016 05;172:233-235.e2

European Paediatric Association, Berlin, Germany; Children's Hospital, Hannover Medical School, Hannover, Germany.

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May 2016

Energy metabolism in neuroblastoma and Wilms tumor.

Transl Pediatr 2015 Jan;4(1):20-32

1 Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, 2 Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria.

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January 2015

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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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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January 2016

Mitochondrial Haplogroup T Is Associated with Obesity in Austrian Juveniles and Adults.

PLoS One 2015 31;10(8):e0135622. Epub 2015 Aug 31.

Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria; Obesity Research Unit, Paracelsus Medical University and Salzburger Landeskliniken, Salzburg, Austria.

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May 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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February 2016

Spectrum of combined respiratory chain defects.

J Inherit Metab Dis 2015 Jul 17;38(4):629-40. Epub 2015 Mar 17.

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

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July 2015

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.

J Inherit Metab Dis 2015 May 17;38(3):467-75. Epub 2015 Feb 17.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Moorenstr. 5, D-40225, Düsseldorf, Germany.

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May 2015

Mitochondria: The ketogenic diet--A metabolism-based therapy.

Int J Biochem Cell Biol 2015 Jun 7;63:55-9. Epub 2015 Feb 7.

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

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June 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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March 2015

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.

Hum Mol Genet 2015 Apr 30;24(8):2247-66. Epub 2014 Dec 30.

Institute for Genetics and Cluster of Excellence: Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Zülpicher Str. 47A, Cologne 50674, Germany, German Network for Mitochondrial Disorders (mitoNET), Germany,

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April 2015

Mitochondrial dysfunction: a neglected component of skin diseases.

Exp Dermatol 2014 Sep;23(9):607-14

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

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September 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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July 2014

Alterations of oxidative phosphorylation complexes in astrocytomas.

Glia 2014 Apr 20;62(4):514-25. Epub 2014 Jan 20.

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

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April 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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December 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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July 2013

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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November 2013

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

J Inherit Metab Dis 2012 Sep 10;35(5):749-59. Epub 2012 Jan 10.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 120 00, Prague 2, Czech Republic.

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September 2012

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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January 2012

Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians.

PLoS One 2011 9;6(12):e27192. Epub 2011 Dec 9.

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

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April 2012

Luminal expression of cubilin is impaired in Imerslund-Grasbeck syndrome with compound AMN mutations in intron 3 and exon 7.

Haematologica 2011 Nov 12;96(11):1715-9. Epub 2011 Jul 12.

Faculté de Médecine, INSERM U954 Nutrition, Genetics, and Environmental Risk Exposure, Vandoeuvre Les Nancy, France.

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November 2011

Effects of galanin message-associated peptide and neuropeptide Y against various non-albicans Candida strains.

Int J Antimicrob Agents 2011 Jul 8;38(1):76-80. Epub 2011 May 8.

Department of Pediatrics, Laura Bassi Centre of Expertise-THERAPEP, Paracelsus Medical University, A-5020 Salzburg, Austria.

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July 2011

Functional outcome of children with mitochondrial diseases.

Pediatr Neurol 2011 May;44(5):340-6

Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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May 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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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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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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January 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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January 2011

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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April 2010

Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma.

Clin Cancer Res 2008 Apr;14(8):2270-5

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

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April 2008

Galanin message-associated peptide suppresses growth and the budded-to-hyphal-form transition of Candida albicans.

Antimicrob Agents Chemother 2007 Nov 13;51(11):4167-70. Epub 2007 Aug 13.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Müllner Hauptstr. 48, A-5020 Salzburg, Austria.

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November 2007

Tick-borne encephalitis in a 17-day-old newborn resulting in severe neurologic impairment.

Pediatr Infect Dis J 2007 Feb;26(2):185-6

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

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February 2007

A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance.

Neuromuscul Disord 2006 Dec 20;16(12):874-7. Epub 2006 Oct 20.

University Children's Hospital, Paracelsus Private Medical University, Müllner Hauptstr 48, A-5020 Salzburg, Austria.

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December 2006

Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria.

Eur J Pediatr 2007 Jan 22;166(1):1-4. Epub 2006 Sep 22.

Department of Pediatrics, 3rd Faculty of Medicine, Charles University, CZ-100 81, Prague, Czech Republic.

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January 2007

Multiplex primer extension analysis for rapid detection of major European mitochondrial haplogroups.

Electrophoresis 2006 Oct;27(19):3864-8

Department of Paediatrics, Paracelsus Private Medical University Salzburg, Salzburg, Austria.

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October 2006