J. Smeitink

Time to Change: A Systems Pharmacology Approach to Disentangle Mechanisms of Drug-Induced Mitochondrial Toxicity
202310 citationsauthor #3
Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape
202310 citationsauthor #50
Metabolic impact of genetic and chemical ADP/ATP carrier inhibition in renal proximal tubule epithelial cells
20234 citationsauthor #6
Disorders of Mitochondrial Carriers
20221 citationsauthor #2
Restoring cellular NAD(P)H levels by PPARα and LXRα stimulation to improve mitochondrial complex I deficiency.
20223 citationsauthor #3
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.
202212 citationsauthor #10
Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant
20223 citationsauthor #3
Dissecting Drug-Induced Cytotoxicity and Metabolic Dysfunction in Conditionally Immortalized Human Proximal Tubule Cells
202218 citationsauthor #2
Disorders of Mitochondrial Homeostasis, Dynamics, Protein Import, and Quality Control
20222 citationsauthor #3
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study
202118 citationsauthor #16
Corrigendum to "Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency" [Biochim. Biophys. Acta. 2007;1772(9):1041-1051. PMID: 17600689].
20210 citationsauthor #6
Sonlicromanol’s active metabolite KH176m normalizes prostate cancer stem cell mPGES-1 overexpression and inhibits cancer spheroid growth
20215 citationsauthor #3
Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review.
202113 citationsauthor #3
High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes
20212 citationsauthor #6
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
20215 citationsauthor #4
Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency
20211 citationsauthor #3
One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation
202117 citationsauthor #7
Blended cognitive behaviour therapy for children and adolescents with mitochondrial disease targeting fatigue (PowerMe): study protocol for a multiple baseline single case experiment
20212 citationsauthor #5
The Redox Modulating Sonlicromanol Active Metabolite KH176m and the Antioxidant MPG Protect Against Short-Duration Cardiac Ischemia-Reperfusion Injury
202114 citationsauthor #6
Mechanism of action and potential applications of selective inhibition of microsomal prostaglandin E synthase-1-mediated PGE2 biosynthesis by sonlicromanol’s metabolite KH176m
202118 citationsauthor #7
NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4-/- mice and Leigh syndrome patients: A stabilizing role for NDUFAF2.
202043 citationsauthor #9
Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice.
202019 citationsauthor #4
Hypothesis: mPGES-1-Derived Prostaglandin E2, a So Far Missing Link in COVID-19 Pathophysiology?
202029 citationsauthor #1
OXPHOS genes expression and control in mitochondrial disorders
2020109 citationsauthor #2
An international classification of inherited metabolic disorders (ICIMD)
2020254 citationsauthor #63
Exome sequencing in paediatric patients with movement disorders
202025 citationsauthor #21
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
20200 citationsauthor #9
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
202030 citationsauthor #15
Psychological functioning in children suspected for mitochondrial disease: the need for care
202010 citationsauthor #6
Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant
202019 citationsauthor #5
Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice.
202013 citationsauthor #10
Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons
202030 citationsauthor #7
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population
202012 citationsauthor #9
Corrigendum to "Superoxide production is inversely related to complex I activity in inherited complex I deficiency" [Biochim Biophys Acta. 1772 (3) (2007) 373-381].
20200 citationsauthor #6
ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
201910 citationsauthor #4
Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature
201917 citationsauthor #4
Octa‐arginine boosts the penetration of elastin‐like polypeptide nanoparticles in 3D cancer models
201929 citationsauthor #6
To be or not to be pink(1): contradictory findings in an animal model for Parkinson’s disease
201927 citationsauthor #10
A fatal case of COQ7‐associated primary coenzyme Q10 deficiency
201935 citationsauthor #6
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
201936 citationsauthor #18
Cell biological consequences of Leigh syndrome
20190 citationsauthor #3
Brothers in Arms: ABCA1- and ABCG1-Mediated Cholesterol Efflux as Promising Targets in Cardiovascular Disease Treatment
2019108 citationsauthor #3
Mitochondrial Migraine: Disentangling the angiopathy paradigm in m.3243A>G patients
201918 citationsauthor #1
Natural variability of daily physical activity measured by accelerometry in children with a mitochondrial disease.
20199 citationsauthor #6
Author response for "Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction"
20190 citationsauthor #15
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array
201913 citationsauthor #6
Live-Imaging Readouts and Cell Models for Phenotypic Profiling of Mitochondrial Function
201921 citationsauthor #3
A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant
201813 citationsauthor #7
Exogenous NAD+ prevents galactose-induced death of Leigh Syndrome patient fibroblasts with isolated complex I deficiency
20180 citationsauthor #3
Serum GDF 15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain , but Not to Disease Progression in Adult m . 3243 A > G Carriers
20187 citationsauthor #10
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
201842 citationsauthor #39
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model
201816 citationsauthor #6
COQ10 deficiency due to biallelic COQ4 mutations – An early onset mitochondrial disorder common in southern Chinese due to a founder mutation
20180 citationsauthor #6
Inhibition of the ER stress IRE1α inflammatory pathway protects against cell death in mitochondrial complex I mutant cells
201823 citationsauthor #6
Corrigendum to "Mitigation of NADH:ubiquinone oxidoreductase deficiency by chronic Trolox treatment" [Biochimica et Biophysica Acta 1777/7-8 (2008) 853-859].
20181 citationsauthor #5
Mechanisms of Disease Monogenic Mitochondrial Disorders
20183 citationsauthor #3
Quantification of gait in children with mitochondrial disease
20181 citationsauthor #8
Fear of disease progression in carriers of the m.3243A > G mutation
201810 citationsauthor #4
The genotypic and phenotypic spectrum of MTO1 deficiency
201833 citationsauthor #19
KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery
201864 citationsauthor #10
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD+
201835 citationsauthor #2
The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders
201848 citationsauthor #11
NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect
201846 citationsauthor #10
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).
201821 citationsauthor #11
Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism
201851 citationsauthor #6
Biodegradable Synthetic Organelles Demonstrate ROS Shielding in Human-Complex-I-Deficient Fibroblasts
201871 citationsauthor #6
Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation
201814 citationsauthor #3
in children : toward development of small-molecule treatment strategies
201862 citationsauthor #7
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop
201829 citationsauthor #13
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy
201729 citationsauthor #10
Mitochondrial tRNA genes are hotspots for mutations in a cohort of patients with exercise intolerance and mitochondrial myopathy.
201721 citationsauthor #8
Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A>G carriers? — a retrospective pilot study
20175 citationsauthor #6
KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers
201734 citationsauthor #8
Domains of Daily Physical Activity in Children with Mitochondrial Disease: A 3D Accelerometry Approach.
20176 citationsauthor #6
Quantification of gait in mitochondrial m.3243A > G patients: a validation study
20176 citationsauthor #6
Erratum to: Quantification of gait in mitochondrial m.3243A > G patients: a validation study
20170 citationsauthor #6
Identificationn of the molecular defect in patients with peroxisomal mosaicismm using a novel method involving culturing of cells at 40 ° C : implicationss for other inborn errors of metabolism
20170 citationsauthor #10
Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease
201744 citationsauthor #13
Radboud Centre for Mitochondrial Medicine Pediatric MRI score.
20174 citationsauthor #7
ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
201714 citationsauthor #26
Trial readiness in children with mitochondrial disease: selection of outcome measures
20170 citationsauthor #6
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism
2017123 citationsauthor #26
Mitochondrial disorders in children: toward development of small‐molecule treatment strategies
201627 citationsauthor #7
Acute stimulation of glucose influx upon mitoenergetic dysfunction requires LKB1, AMPK, Sirt2 and mTOR–RAPTOR
201634 citationsauthor #3
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
201621 citationsauthor #9
Bromodomain Inhibitors Correct Bioenergetic Deficiency Caused by Mitochondrial Disease Complex I Mutations.
201655 citationsauthor #10
Gait analysis in a mouse model resembling Leigh disease.
201630 citationsauthor #3
DROSOPHILA AS A MODEL TO STUDY THERAPEUTIC APPROACHES FOR MITOCHONDRIAL DISEASES
20163 citationsauthor #2
Three families with ‘de novo’ m.3243A > G mutation
201623 citationsauthor #6
Multiplexed high-content analysis of mitochondrial morphofunction using live-cell microscopy
201686 citationsauthor #2
FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders
2016192 citationsauthor #20
Transcriptome analysis of complex I-deficient patients reveals distinct expression programs for subunits and assembly factors of the oxidative phosphorylation system
201516 citationsauthor #3
MtDNA mutagenesis impairs elimination of mitochondria during erythroid maturation leading to enhanced erythrocyte destruction
201562 citationsauthor #9
Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.
201532 citationsauthor #4
KH176: A NEW SMALL MOLECULE TO POTENTIALLY COMBAT MITOCHONDRIAL DISEASES
20150 citationsauthor #11
A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.
20159 citationsauthor #5
Quantifying small molecule phenotypic effects using mitochondrial morpho-functional fingerprinting and machine learning
201542 citationsauthor #2
Increased mitochondrial ATP production capacity in brain of healthy mice and a mouse model of isolated complex I deficiency after isoflurane anesthesia
201515 citationsauthor #6
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome
201539 citationsauthor #20
Mitochondrial myopathy biomarker Fibroblast growth factor 21 is induced by muscle mtDNA instability and translation defects
20152 citationsauthor #7

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