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Jan A.M. Smeitink

Jan A.M. Smeitink

D-Index & Metrics

Genetics

D-Index
111
Citations
40778
World Ranking
520
National Ranking
21

Medicine

D-Index
113
Citations
42711
World Ranking
4999
National Ranking
191

Research.com Recognitions

  • 2013 - Member of Academia Europaea

Overview

Jan A.M. Smeitink is affiliated with Radboud University in the Netherlands. Their work predominantly spans the fields of Biochemistry, Genetics and Molecular Biology, alongside Medicine. Within these broad areas, their research focuses on specific subfields including Molecular Biology, Clinical Biochemistry, Genetics, Pharmacology, and Physiology.

The scientist's research topics center on several key areas: Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, Genetics and Neurodevelopmental Disorders, Autophagy in Disease and Therapy, Parkinson's Disease Mechanisms and Treatments, and Histone Deacetylase Inhibitors Research.

Jan A.M. Smeitink has contributed to multiple recent publications, including:

  • NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4 mice and Leigh syndrome patients: A stabilizing role for NDUFAF2, 2020, Biochimica et Biophysica Acta (BBA) - Bioenergetics
  • Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction, 2020, Clinical Genetics
  • Hypothesis: mPGES-1-Derived Prostaglandin E2, a So Far Missing Link in COVID-19 Pathophysiology?, 2020, Preprints.org
  • Oxidative switch drives mitophagy defects in dopaminergic parkin mutant patient neurons, 2020, Scientific Reports
  • Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons, 2021, Stem Cell Reports

The frequent co-authors collaborating with Jan A.M. Smeitink include Richard J. Rodenburg, G. Herma Renkema, Mirian C. H. Janssen, Julien Beyrath, and Frans G. M. Rüssel.

Their research has been disseminated through various publication venues, with notable appearances in:

  • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
  • Orphanet Journal of Rare Diseases
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Scientific Reports
  • BMC Neurology

Jan A.M. Smeitink was recognized as a Member of Academia Europaea in 2013.

Best Publications

  • A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

    Nathalie M.J. van der Put;Fons Gabreëls;Erik M.B. Stevens;Jan A.M. Smeitink

  • Mitochondrial toxicity induced by nucleoside-analogue reverse-transcriptase inhibitors is a key factor in the pathogenesis of antiretroviral-therapy-related lipodystrophy

    Kees Brinkman;Jan A Smeitink;Johannes A Romijn;Peter Reiss

  • Adverse effects of reverse transcriptase inhibitors: mitochondrial toxicity as common pathway.

    K. Brinkman;H.J.M. ter Hofstede;D.M. Burger;J.A.M. Smeitink

  • The genetics and pathology of oxidative phosphorylation.

    Jan Smeitink;Lambert van den Heuvel;Salvatore DiMauro

  • Mitochondrial ATP synthase: architecture, function and pathology

    An I. Jonckheere;Jan A. M. Smeitink;Richard J. T. Rodenburg

  • The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

    Hannerieke M. P. van den Hout;Wim Hop;Otto P. van Diggelen;Jan A. M. Smeitink

  • Monogenic Mitochondrial Disorders

    Werner J H Koopman;Peter H G M Willems;Jan A M Smeitink

  • Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

    Gert C Scheper;Thom van der Klok;Rob J van Andel;Carola G M van Berkel

  • Mitochondrial creatine kinase: a key enzyme of aerobic energy metabolism

    Markus Wyss;Jan Smeitink;Ron A. Wevers;Theo Wallimann

  • Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation

    Werner J.H. Koopman;Leo G.J. Nijtmans;Cindy E.J. Dieteren;Peggy Roestenberg

  • FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study.

    Anu Suomalainen;Anu Suomalainen;Jenni M Elo;Kirsi H Pietiläinen;Anna H Hakonen

  • A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

    Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  • Mitochondrial function and morphology are impaired in parkin mutant fibroblasts

    Heather Mortiboys;Kelly Jean Thomas;Werner J. H. Koopman;Stefanie Klaffke

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

    Antoon J.M. Janssen;Frans J.M. Trijbels;Rob C.A. Sengers;Jan A.M. Smeitink

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

    Felix Distelmaier;Felix Distelmaier;Werner J.H. Koopman;Lambertus P. van den Heuvel;Richard J. Rodenburg

  • Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

    J.L.C.M. Loeffen;J.A.M. Smeitink;J.M.F. Trijbels;A.J.M. Janssen

  • The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

    Jan Loeffen;Jan Smeitink;Ralf Triepels;Roel Smeets

  • Application of a ketogenic diet in children with autistic behavior: pilot study.

    Athanasios Evangeliou;Ioannis Vlachonikolis;Helen Mihailidou;Martha Spilioti

  • Mitochondrial complex I: structure, function and pathology.

    Rolf J. R. J. Janssen;Leo G. Nijtmans;Lambert P. van den Heuvel;Jan A. M. Smeitink

  • Mitochondrial toxicity induced by nucleoside-analogue reserve-transcriptase inhibitors is a key in the pathogenesis of antiretroviral therapy-related lipodystrophy.

    K. Brinkman;J.A.M. Smeitink;J.A. Romijn;P. Reiss

Frequent Co-Authors

Richard J. Rodenburg
Richard J. Rodenburg Radboud University
Peter H. G. M. Willems
Peter H. G. M. Willems Radboud University
Lambert P. van den Heuvel
Lambert P. van den Heuvel Radboud University
Werner J.H. Koopman
Werner J.H. Koopman Radboud University
Leo G. Nijtmans
Leo G. Nijtmans Radboud University
Ron A. Wevers
Ron A. Wevers Radboud University
Eva Morava
Eva Morava Mayo Clinic
Frans J.M. Trijbels
Frans J.M. Trijbels Radboud University
Martijn A. Huynen
Martijn A. Huynen Radboud University Medical Center
Ertan Mayatepek
Ertan Mayatepek Heinrich Heine University Düsseldorf

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