List of works - Johannes A Mayr

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

scientific article published on 2 April 2012

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

article

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

scientific article

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

scientific article published on 20 October 2006

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex

scientific article published in June 2006

Age-Related Deterioration of Mitochondrial Function in the Intestine

scientific article published on 18 August 2020

Alterations of oxidative phosphorylation complexes in astrocytomas.

scientific article

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors

scientific article

Alterations of respiratory chain complexes in sporadic pheochromocytoma

scientific article published on 01 January 2011

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

scientific article published in January 2017

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

scientific article published on 03 January 2016

BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension

scientific article published on 01 May 2019

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

scientific article published on 16 February 2018

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

scientific article published on 24 July 2017

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

scientific article published on 14 September 2017

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

scientific article published on 16 May 2019

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Characterization and function in vivo of two novel phospholipases B/lysophospholipases from Saccharomyces cerevisiae.

scientific article

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

scientific article

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

scientific article published on 14 April 2015

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

scientific article

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

scientific article published in January 2005

Danon disease: case report and detection of new mutation.

scientific article published on 7 July 2009

Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma

scientific article published on 4 February 2004

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

scientific article published on 26 March 2021

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

scientific article published on 17 October 2006

Deficiency of respiratory chain complex I in Hashimoto thyroiditis

scientific article published on 7 November 2015

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

scientific article published on 16 July 2011

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

scientific journal article

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

scientific article published on 13 January 2020

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. ⬇️

scientific article

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016

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

scientific article published on 18 January 2016

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

scientific article

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

scientific article published on 5 October 2014

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

scientific article published on 10 December 2015

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

scientific article

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

scientific article

GAL3 receptor KO mice exhibit an anxiety-like phenotype

scientific article

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

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

scientific article published on 23 September 2014

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor

scientific article published on 01 January 2011

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

scientific article published on 5 May 2011

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

scientific article published on 05 May 2012

Identification of a novel, Ca2+ -dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae

scientific article published on 01 September 1996

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

scientific article

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

scientific article published on December 2013

Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model

scientific article published on 8 June 2015

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

scientific article published on 07 July 2017

Lack of complex I is associated with oncocytic thyroid tumours

scientific article published on 07 April 2009

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

scientific article published on February 2010

Lipid metabolism in mitochondrial membranes

scientific article published on August 2014

Lipoic acid biosynthesis defects.

scientific article published on 29 April 2014

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

scientific article published in December 2011

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

scientific article published in April 2008

Loss of mitochondria in ganglioneuromas

scientific article published on 01 January 2011

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

scientific article

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

scientific article published on 24 September 2016

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

scientific article

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

scientific article published on 29 December 2012

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

scientific article

Mitochondrial DNA depletion in Alpers syndrome

scientific article

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

scientific article

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism

scientific article published in January 2006

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

scientific article published in April 2010

Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians

scientific article

Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study

scientific article

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

scientific article

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

scientific article published on 12 December 2012

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

scientific article

Molecular and clinical spectra of FBXL4 deficiency.

scientific article published on 22 September 2017

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

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

scientific article

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

scientific article published on 18 February 2014

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

scientific article published on 2 April 2015

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

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

scientific article published on 10 January 2012

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Platelet transfusion can mimic somatic mtDNA mutations

scientific article published on 01 February 2006

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndrome?

scientific article

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

scientific article published on 11 April 2013

Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations.

scientific article

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

scientific article published on 14 November 2018

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

scientific article

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

scientific article published on 26 December 2011

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

scientific article published on January 2011

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

scientific article

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

scientific article

Severe depletion of mitochondrial DNA in spinal muscular atrophy

scientific article

Spectrum of combined respiratory chain defects

scientific article published on 17 March 2015

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

scientific article

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations

scientific article

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

scientific article published on 16 June 2015

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

scientific article

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

scientific article published on 20 December 2014

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

scientific article published on 02 October 2020

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

scientific article published on December 2011

Treatable mitochondrial diseases: cofactor metabolism and beyond

scientific article published on 19 December 2016

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease

scientific article

List of works by Johannes A Mayr

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

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

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

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

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex

Age-Related Deterioration of Mitochondrial Function in the Intestine

Alterations of oxidative phosphorylation complexes in astrocytomas.

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors

Alterations of respiratory chain complexes in sporadic pheochromocytoma

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

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

CAD mutations and uridine-responsive epileptic encephalopathy.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

Characterization and function in vivo of two novel phospholipases B/lysophospholipases from Saccharomyces cerevisiae.

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Danon disease: case report and detection of new mutation.

Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Deficiency of respiratory chain complex I in Hashimoto thyroiditis

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

Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration

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. ⬇️

Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

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

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

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

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

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

GAL3 receptor KO mice exhibit an anxiety-like phenotype

Genetic diagnosis of Mendelian disorders via RNA sequencing

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

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms tumor

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

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

Identification of a novel, Ca2+ -dependent phospholipase D with preference for phosphatidylserine and phosphatidylethanolamine in Saccharomyces cerevisiae

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

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

Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

Lack of complex I is associated with oncocytic thyroid tumours

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

Lipid metabolism in mitochondrial membranes

Lipoic acid biosynthesis defects.

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

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

Loss of mitochondria in ganglioneuromas

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

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

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

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

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

Mitochondrial DNA depletion in Alpers syndrome

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism

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

Mitochondrial haplogroups and control region polymorphisms are not associated with prostate cancer in Middle European Caucasians

Mitochondrial haplogroups and control region polymorphisms in age-related macular degeneration: a case-control study

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