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List of works by Richard J Rodenburg

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

scientific article published on 25 January 2013

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency

scientific article

A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children

scientific article published on 25 July 2012

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

scientific article published on 18 October 2013

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome

scientific article published on 20 October 2011

A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cell line.

scientific article published in April 2004

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

scientific article

A functional Sp1 binding site is essential for the activity of the adult liver-specific human insulin-like growth factor II promoter

scientific article published in February 1997

A guide to diagnosis and treatment of Leigh syndrome.

scientific article

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

scientific article

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

scientific article published on 17 November 2012

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

scientific article published on 2 November 2012

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

scientific article

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

scientific article published on 23 January 2009

A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

scientific article published on 22 October 2007

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

scientific article published on 13 November 2014

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

scientific article published on 21 January 2013

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.

scientific article

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

scientific article

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

scientific article published on 27 May 2016

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

scientific article

Analysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profiling

scientific article (publication date: 2013)

Androgenic activity in surface water samples detected using the AR-LUX assay: indications for mixture effects

scientific article published on February 2005

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation

scientific article published on 9 March 2006

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

scientific article published on 03 January 2016

Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

scientific article published in July 2009

Beta-adrenergic receptor agonists induce the release of granulocyte chemotactic protein-2, oncostatin M, and vascular endothelial growth factor from macrophages.

scientific article

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

scientific article published on 24 July 2017

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

scientific article published on 14 September 2017

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

scientific article published on 01 September 2016

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

scientific article published on 16 November 2008

Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

scientific article published in September 2004

C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation

scientific article

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

scientific article published on 10 April 2013

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

scientific article

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

scientific article

Characterization of anti-inflammatory compounds using transcriptomics, proteomics, and metabolomics in combination with multivariate data analysis.

scientific article published in November 2004

Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle

scientific article published on 02 November 2007

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations

scientific article published on 01 April 2006

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

scientific article

Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

scientific article

Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.

scientific article published on January 2010

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency

scientific article published on 17 January 2018

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

article

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

scientific article published in PLoS ONE

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

scientific article

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance

scientific article published on 8 March 2011

Depressive behaviour in children diagnosed with a mitochondrial disorder

scientific article published on 31 May 2010

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

Detection of hormonal anabolic compounds in calf urine and unverified growth-promoting preparations: application of the AR-LUX bioassay for screening and determination of androgenic activity.

scientific article published on November 2003

Development of an Androgen Reporter Gene Assay (AR-LUX) Utilizing a Human Cell Line with an Endogenously Regulated Androgen Receptor ⬇️

scientific article published on November 1, 2001

Development of subdural effusions in association with pyruvate dehydrogenase deficiency.

scientific article

Dietary intervention and oxidative phosphorylation capacity

scientific article published on 19 June 2006

Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.

scientific article published in January 2007

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

scientific article

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake

scientific article

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

scientific article published on 21 July 2017

Early cardiac involvement in children carrying the A3243G mtDNA mutation

scientific article published in March 2007

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

scientific article published on 01 April 2007

Endotoxin-induced liver damage in rats is minimized by beta 2-adrenoceptor stimulation

scientific article published on 16 February 2004

Enhanced number and activity of mitochondria in multiple sclerosis lesions

scientific article published in October 2009

Erratum to: Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A>G mutation

scientific article published on 20 July 2012

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

scientific article published in January 2017

Expression of macrophage-derived chemokine (MDC) mRNA in macrophages is enhanced by interleukin-1beta, tumor necrosis factor alpha, and lipopolysaccharide.

scientific article

Fatal Hypertensive Crisis as Presentation of Mitochondrial Complex I Deficiency

scientific article published on 01 June 2007

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

scientific article published on 17 June 2015

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

scientific article published on 27 March 2018

Females with PDHA1 gene mutations: a diagnostic challenge.

scientific article

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

scientific article

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

scientific article

Gene amplification in a human osteosarcoma cell line results in the persistence of the original chromosome and the formation of translocation chromosomes

scientific article published on May 1, 1992

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

scientific article published on 5 April 2012

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

scientific article published on 30 May 2013

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders

scientific article published on 11 October 2014

High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.

scientific article published on 31 December 2009

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

scientific article published on 20 August 2019

Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL

scientific article published on 02 September 2020

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

scientific article published on 01 June 2020

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

scientific article published in May 2012

In search of secreted protein biomarkers for the anti-inflammatory effect of beta2-adrenergic receptor agonists: application of DIGE technology in combination with multivariate and univariate data analysis tools.

scientific article

Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia.

scientific article

Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1.

scientific article

Inhibitory effects of the beta-adrenergic receptor agonist zilpaterol on the LPS-induced production of TNF-alpha in vitro and in vivo

scientific article

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes

scientific article published on 28 November 2017

Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays

scientific article published on 10 November 2008

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

scientific article

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 associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2 ⬇️

scientific article published on December 22, 2012

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

scientific article

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

scientific article

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

scientific article published on 03 September 2019

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

scientific article

MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course

scientific article

MR spectroscopy of the brain in Leigh syndrome

scientific article published on 10 March 2008

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

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

scientific article published on 24 February 2018

Major depression in adolescent children consecutively diagnosed with mitochondrial disorder

scientific article published on 9 August 2008

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

scientific article published on 16 March 2006

Metabolic capacity of the diaphragm in patients with COPD.

scientific article published on 27 October 2005

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts.

scientific article

Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes

scientific article published on 19 December 2016

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

scientific article published on 15 February 2017

Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function

scientific article

Mitochondrial ATP synthase: architecture, function and pathology.

scientific article

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

scientific article published on 07 July 2012

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.

scientific article published on 31 March 2009

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.

scientific article published on 11 July 2016

Mitochondrial complex I-linked disease

scientific article published on 20 February 2016

Mitochondrial complex V expression and activity in cystinotic fibroblasts

scientific article published in November 2008

Mitochondrial disease criteria: Diagnostic applications in children

scientific article published on 01 November 2006

Mitochondrial disorders in children: toward development of small-molecule treatment strategies

scientific article

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

scientific article

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

scientific article published in April 2006

Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying anND1 gene mutation

article

Mitochondrial dysfunction in a patient with Joubert syndrome

scientific article published in June 2005

Mitochondrial dysfunction in muscle tissue of complex regional pain syndrome type I patients

scientific article published on 22 January 2011

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

scientific article published on 20 December 2014

Mitochondrial energy production correlates with the age-related BMI.

scientific article

Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome

article

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

scientific article

Molecular base of biochemical complex I deficiency.

scientific article published on 20 July 2012

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

scientific article published on 7 September 2006

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

scientific article

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

scientific article published on 22 September 2006

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

scientific article published on 6 April 2017

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

scientific article published in March 2017

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy ⬇️

scientific article published on December 29, 2010

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

scientific article

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

scientific article

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

scientific article

Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy

scientific journal article

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

scientific article published on 29 June 2016

Mutations in RARS cause hypomyelination

scientific article (publication date: July 2014)

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis

scientific article published on 18 December 2017

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

scientific article published on 11 December 2016

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

scientific article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

scientific article

NDUFA2 complex I mutation leads to Leigh disease

scientific article

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

scientific article

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

scientific article published on 30 August 2017

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

scientific article

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

scientific article

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

scientific article

New mitochondrial tRNA HIS mutation in a family with lactic acidosis and stroke-like episodes (MELAS).

scientific article published on 17 June 2011

Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note

scientific article published on 20 May 2008

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

scientific article published on 6 February 2017

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

scientific article

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

scientific article published on 21 March 2010

Overexpression of Akt converts radial growth melanoma to vertical growth melanoma.

scientific article published on 22 February 2007

Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

scientific article published in Nature Communications

Peripheral blood monocytes of rheumatoid arthritis patients do not express elevated TNF α, IL-1β, and IL-8 mRNA levels. A comparison of monocyte isolation procedures

scientific article published on 01 December 1998

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

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

scientific article

Postnatal liver-specific expression of human insulin-like growth factor-II is highly stimulated by the transcriptional activators liver-enriched activating protein and CCAAT/enhancer binding protein-alpha

scientific article published in April 1995

Primary skeletal muscle myoblasts from chronic heart failure patients exhibit loss of anti-inflammatory and proliferative activity.

scientific article

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

scientific article published on 4 April 2018

Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation

scientific article published on 18 March 2016

Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning.

scientific article published on 26 January 2015

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

scientific article

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia

scientific article published on 4 July 2017

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome

scientific article published on 16 August 2008

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

scientific article

Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation

scientific article published on 12 February 2007

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

article

Rheumatoid Arthritis is a Lining Cell Disease: An Evolving Concept.

scientific article published on 15 November 1999

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

scientific article

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

scientific article published on 27 September 2015

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

scientific article published on 14 February 2007

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins.

scientific article published on August 2006

Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies

scientific article published in December 2010

Serum FGF21 levels in adult m.3243A>G carriers: Clinical implications

scientific article published on 06 June 2014

Skeletal muscle mitochondria of NDUFS4-/- mice display normal maximal pyruvate oxidation and ATP production

scientific article published on 14 February 2015

Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system

scientific article published in June 2006

Socio-emotional Problems in Children with CDG.

scientific article published on 4 June 2013

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

scientific article published on 01 March 2007

Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.

scientific article published on September 2015

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

scientific article published on 9 October 2017

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

scientific journal article

Superinduction of interleukin 8 mRNA in activated monocyte derived macrophages from rheumatoid arthritis patients.

scientific article published on October 1999

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

scientific journal article

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

scientific journal article

The antiinflammatory drug sulfasalazine inhibits tumor necrosis factor α expression in macrophages by inducing apoptosis

scientific article published on 01 September 2000

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: Progress report

scientific article published on 01 February 2006

The functional genomics laboratory: functional validation of genetic variants

scientific article published on 14 February 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The liver-specific promoter of the human insulin-like growth factor II gene is activated by CCAAT/enhancer binding protein (C/EBP).

scientific article published in June 1992

The liver-specific promoter of the human insulin-like growth factor-II gene contains two negative regulatory elements

scientific article published in September 1996

The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

article

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases ⬇️

scientific article published on 09 March 2012

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

scientific article

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

scientific article published on 20 December 2014

Three families with 'de novo' m.3243A > G mutation

scientific article published on 29 April 2016

Transcriptional Regulation of the Human IGF-II Gene

article

Transcriptional and post-transcriptional regulation of the human IGF-II gene expression.

scientific article published on January 1993

Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis

scientific article published on 17 October 2011

Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells.

scientific article published on 13 June 2012

Unheated Cannabis sativa extracts and its major compound THC-acid have potential immuno-modulating properties not mediated by CB1 and CB2 receptor coupled pathways.

scientific article

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

scientific article published on 4 March 2015

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

scientific article

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