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List of works by Holger Prokisch

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing

scientific article published on 25 January 2018

A DNA methylation biomarker of alcohol consumption.

scientific article

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

article

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

scientific article published on 20 June 2018

A common FADS2 promoter polymorphism increases promoter activity and facilitates binding of transcription factor ELK1.

scientific article published on January 2010

A common atopy-associated variant in the Th2 cytokine locus control region impacts transcriptional regulation and alters SMAD3 and SP1 binding

scientific article published on 25 March 2014

A genome-wide association study identifies three loci associated with mean platelet volume

scientific article published on 24 December 2008

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A meta-analysis of gene expression signatures of blood pressure and hypertension

scientific article (publication date: March 2015)

A mutation screening of oncogenes, tumor suppressor gene TP53 and nuclear encoded mitochondrial complex I genes in oncocytic thyroid tumors.

scientific article

A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function

scientific article published on 12 February 2009

A population-based epidemiological and genetic study of X-linked retinitis pigmentosa

scientific article published on September 2007

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

scientific article published on 18 April 2016

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

scientific article

A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking

scientific article

ACSL4 dictates ferroptosis sensitivity by shaping cellular lipid composition

scientific article published on 14 November 2016

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration

scientific article

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

scientific article

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

scientific article published on 17 August 2016

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

scientific article

Advancing genomic approaches to the molecular diagnosis of mitochondrial disease

scholarly article by Sarah Louise Stenton published in June 2018

Alterations of red cell membrane properties in neuroacanthocytosis

scientific article (publication date: 2013)

An integrated epigenetic and transcriptomic analysis reveals distinct tissue-specific patterns of DNA methylation associated with atopic dermatitis

scientific article published on 13 February 2014

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

scientific article published in January 2017

Analyzing Illumina Gene Expression Microarray Data Obtained From Human Whole Blood Cell and Blood Monocyte Samples

scientific article

Analyzing illumina gene expression microarray data from different tissues: methodological aspects of data analysis in the metaxpress consortium

scientific article

Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration

scientific article published in January 2008

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

scientific article published on 29 October 2019

Assessing Mitochondrial Bioenergetics in Isolated Mitochondria from Various Mouse Tissues Using Seahorse XF96 Analyzer

scientific article published in January 2017

Assessing systems properties of yeast mitochondria through an interaction map of the organelle

scientific article

Association between DNA Methylation in Whole Blood and Measures of Glucose Metabolism: KORA F4 Study

scientific article

Association of Methylation Signals With Incident Coronary Heart Disease in an Epigenome-Wide Assessment of Circulating Tumor Necrosis Factor α.

scientific article

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

scientific article published on 03 January 2016

BPAN: the only X-linked dominant NBIA disorder

scientific article published on January 2013

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

scientific article published on 30 November 2016

Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice

scientific article published on 9 June 2016

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

article

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function

article

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

scientific article published on 19 January 2016

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 DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

scientific article published on 26 January 2017

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

scientific article published on 24 July 2017

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

scientific article

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy

scientific article published on 15 September 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 UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

scientific journal article

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

scientific article published on 14 September 2017

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome

scientific article

C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis

scientific article

CAD mutations and uridine-responsive epileptic encephalopathy.

scientific article published on 21 December 2016

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

scientific article

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

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

Cell Specific eQTL Analysis without Sorting Cells

scientific article published on 8 May 2015

Cell specific eQTL analysis without sorting cells

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

article

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

scientific article published on 6 October 2016

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

scientific article published on 10 April 2017

Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation

scientific article published on 21 February 2008

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

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

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

scientific article

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

scientific article

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

scientific article published on 26 February 2015

Correction: Alterations of Red Cell Membrane Properties in Nneuroacanthocytosis

scientific article published in PLoS ONE

Correction: Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

scientific article

DJ-1-deficient mice show less TH-positive neurons in the ventral tegmental area and exhibit non-motoric behavioural impairments

scientific article

DNA methylation of lipid-related genes affects blood lipid levels

scientific article published on 12 January 2015

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

scientific article

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

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

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

scientific article published on 20 May 2017

Detection of aberrant gene expression events in RNA sequencing data

scientific article published on 18 January 2021

Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

scientific article published in 2022

Differences between human plasma and serum metabolite profiles

scientific article

Dilution of candidates: the case of iron-related genes in restless legs syndrome

scientific article published on 29 August 2012

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

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

scientific article published on 16 January 2016

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

scientific article

Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism

scientific article published on 22 May 2017

Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different Tissues

scientific article

Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study

scientific article

Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity

scientific article published on 21 December 2016

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

scientific article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

scientific article

Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry

scientific article published on 19 March 2016

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

scientific article published on 21 December 2020

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

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

scientific article

Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts

scientific article published on 15 October 2015

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

scientific article

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

scientific article published on 17 June 2015

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

scientific article published on 04 September 2019

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic cause and prevalence of hydroxyprolinemia

Genetic determinants of circulating interleukin-1 receptor antagonist levels and their association with glycemic traits

scientific article

Genetic diagnosis of Mendelian disorders via RNA sequencing

scientific article published on 12 June 2017

Genetic diagnosis of Mendelian disorders via RNA sequencing

article

Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease

scientific article published on 8 July 2009

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

scientific article published in March 2006

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

scientific journal article

Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.

scientific article

Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus

scientific article

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

scientific article published in 2022

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

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

scientific article published on 5 May 2011

High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.

scientific article published on September 2017

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

scientific article published on 16 December 2015

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis

scientific article published on 02 June 2013

Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export

scientific article published on 05 February 2019

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

scientific article published on 05 May 2012

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

scientific article

Identification of Disease-Causing Mutations by Functional Complementation of Patient-Derived Fibroblast Cell Lines

scientific article published on January 2017

Identification of genetic loci associated with Helicobacter pylori serologic status

scientific article published in May 2013

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Impact of common regulatory single-nucleotide variants on gene expression profiles in whole blood

scientific article

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

scientific article

Impairment of Drosophila orthologs of the human orphan protein C19orf12 induces bang sensitivity and neurodegeneration

scientific article

Impairment of calcineurin function in Neurospora crassa reveals its essential role in hyphal growth, morphology and maintenance of the apical Ca 2+ gradient

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

scientific article

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

scientific article published on 30 May 2014

Integrative analysis of the mitochondrial proteome in yeast

scientific article

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

scientific article published on 27 October 2015

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

scientific article published on 07 July 2017

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

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

scientific article

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

scientific article

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Low-frequency rTMS of the premotor cortex reduces complex movement patterns in a patient with pantothenate kinase-associated neurodegenerative disease (PKAN).

scientific article published on 15 January 2009

MAP-1 and IAP-1, two novel AAA proteases with catalytic sites on opposite membrane surfaces in mitochondrial inner membrane of Neurospora crassa

scientific article published on September 2001

MITOP: database for mitochondria-related proteins, genes and diseases.

scientific article published on January 1999

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

scientific article published on 24 March 2015

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

scientific article published on 10 February 2015

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

scientific article

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

scientific article

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

scientific article published on 10 October 2013

Mapping the genetic architecture of gene regulation in whole blood

scientific article

Mechanisms for multiple intracellular localization of human mitochondrial proteins

scientific article

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

scientific article

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult

scientific article

MitoP2, an Integrated Database for Mitochondrial Proteins

scholarly article by Holger Prokisch & Uwe Ahting published 2007 in Methods in Molecular Biology

MitoP2, an integrated database on mitochondrial proteins in yeast and man

scientific article

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

scientific article published on 09 September 2008

Mitochondria: Much ado about nothing? How dangerous is reactive oxygen species production?

scientific article

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy

scientific article published on 11 October 2008

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

scientific article (publication date: March 2015)

Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels

scientific article published on 6 May 2015

Mitochondrial Membrane Protein-Associated Neurodegeneration

scientific article published on 28 February 2014

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

scientific journal article

Mitochondrial dynamics in filamentous fungi

scientific article

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation

scientific article published on 19 November 2012

Mitochondrial membrane protein-associated neurodegeneration (MPAN).

scientific article

Mitochondrial replacement approaches: challenges for clinical implementation.

scientific article

Molecular Characterization of the NLRC4 Expression in Relation to Interleukin-18 Levels

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

Multi-omic signature of body weight change: results from a population-based cohort study

scientific article

Multiple loci are associated with white blood cell phenotypes

scientific article

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

scientific article

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

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 MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

scientific journal article

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

scientific article published on 10 May 2018

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

scientific article published on 23 December 2013

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

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

scientific article published on 2 April 2015

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

scientific article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

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

scientific journal article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

Neonatal encephalocardiomyopathy caused by mutations in VARS2.

scientific article

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import

article

Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

scientific article published on 26 October 2017

Novel biomarkers for pre-diabetes identified by metabolomics

scientific article

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

scientific article published on 11 July 2018

OUTRIDER: A statistical method for detecting aberrantly expressed genes in RNA sequencing data

article

Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes

scientific article published in November 2014

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

scientific article published on 19 December 2013

PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum

Pantothenate kinase-associated neurodegeneration

scientific article

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

scientific article published on 27 December 2020

Pex7p and Pex20p of Neurospora crassa function together in PTS2-dependent protein import into peroxisomes

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

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

Protein import into mitochondria of Neurospora crassa

scientific article

Proteome analysis of mitochondrial outer membrane from Neurospora crassa

scientific article published in January 2006

Quantification and discovery of sequence determinants of protein per mRNA amount in 29 human tissues

Quantification and discovery of sequence determinants of protein-per-mRNA amount in 29 human tissues

scientific article published on 18 February 2019

Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation

scientific article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Recessive mutations in VPS13D cause childhood-onset movement disorders

scientific article published on 8 March 2018

Reconstituted TOM core complex and Tim9/Tim10 complex of mitochondria are sufficient for translocation of the ADP/ATP carrier across membranes

scientific article

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

scientific article published on 5 November 2015

Reply

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

scientific article

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

article

Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

scientific article published on 30 September 2010

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

scientific article

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

scientific article

SLC2A9 influences uric acid concentrations with pronounced sex-specific effects

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 ichthyosis in MPDU1-CDG

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

scientific article published on 2 May 2016

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

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

Systematic identification of trans eQTLs as putative drivers of known disease associations

scientific article (publication date: October 2013)

Systematic screen for human disease genes in yeast

scientific article (publication date: August 2002)

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The Human Blood Metabolome-Transcriptome Interface

scientific article published on 18 June 2015

The Nfs1 interacting protein Isd11 has an essential role in Fe/S cluster biogenesis in mitochondria

scientific article

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

scientific article

The diagnosis of inborn errors of metabolism by an integrative "multi-omics" approach: A perspective encompassing genomics, transcriptomics, and proteomics

scientific article published on 25 June 2019

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The many faces of paediatric mitochondrial disease on neuroimaging

scientific article

The mitochondrial proteome database: MitoP2.

scientific article

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

scientific article

The phenotypic spectrum of <i>COX20</i>-associated mitochondrial disorder

scientific article published in 2022

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

scientific article published on 20 December 2014

The transcriptional landscape of age in human peripheral blood

scientific article

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

scientific article published on December 2011

Tim50, a novel component of the TIM23 preprotein translocase of mitochondria

scientific article published on February 2003

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure

scientific article published on 07 August 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond

scientific article published on 19 December 2016

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

scientific article published on 17 May 2013

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