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Richard J. Rodenburg

Richard J. Rodenburg

D-Index & Metrics

Genetics

D-Index
82
Citations
19979
World Ranking
1485
National Ranking
55

Overview

Richard J. Rodenburg is affiliated with Radboud University in the Netherlands. Their research primarily focuses on the intersection of biochemistry, genetics, and molecular biology, with a strong emphasis on mitochondrial function and related pathologies.

The scientist's work spans several subfields including molecular biology, clinical biochemistry, genetics, cellular and molecular neuroscience, and cell biology. These areas reflect the diverse investigative approaches employed across their studies.

Key topics addressed in Rodenburg's research include mitochondrial function and pathology, metabolism and genetic disorders, ATP synthase and ATPases research, genomics and rare diseases, genetic neurodegenerative diseases, RNA modifications and cancer, and genetics and neurodevelopmental disorders.

Rodenburg has contributed to numerous publications, especially in journals and platforms such as bioRxiv (Cold Spring Harbor Laboratory), Research Square, Biochimica et Biophysica Acta (BBA) - Bioenergetics, Orphanet Journal of Rare Diseases, and Genetics in Medicine. These venues have hosted multiple studies reflecting their ongoing research activity.

Selected recent papers include:

  • "m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity," 2020, Cell Reports
  • "How to proceed after 'negative' exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques," 2022, Journal of Inherited Metabolic Disease
  • "TMEM70 functions in the assembly of complexes I and V," 2020, Biochimica et Biophysica Acta (BBA) - Bioenergetics
  • "Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease," 2020, Hepatology
  • "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

Frequent collaborators in Rodenburg's research include Jan Smeıtınk, Liesbeth T. Wintjes, Cheuk-Wing Fung, Lisenka E.L.M. Vissers, and Werner J.H. Koopman. These coauthors have contributed to multiple joint publications, highlighting established research partnerships.

Best Publications

  • Mitochondrial ATP synthase: architecture, function and pathology

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

  • Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations

    Luis Carlos López;Markus Schuelke;Catarina M. Quinzii;Tomotake Kanki

  • 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

  • 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

  • Mitochondrial disease criteria: diagnostic applications in children.

    E. Morava;L.P.W.J. van den Heuvel;F.A. Hol;M.C. de Vries

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

    Baskaran Govindarajan;Baskaran Govindarajan;James E. Sligh;James E. Sligh;Bethaney J. Vincent;Bethaney J. Vincent;Meiling Li;Meiling Li

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

    Ekta Lachmandas;Lily Boutens;Lily Boutens;Jacqueline M. Ratter;Jacqueline M. Ratter;Anneke Hijmans

  • Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function

    Martijn F Hoes;Niels Grote Beverborg;J David Kijlstra;Jeroen Kuipers

  • A guide to diagnosis and treatment of Leigh syndrome

    Fabian Baertling;Richard J. T. Rodenburg;Jörg Schaper;Jan A. M. Smeitink

  • Enhanced number and activity of mitochondria in multiple sclerosis lesions.

    Maarten E Witte;Lars Bø;Richard J Rodenburg;Jeroen A Belien

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

    Rosalba Carrozzo;Carlo Dionisi-Vici;Ulrike Steuerwald;Simona Lucioli

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

    Saskia B Wortmann;Frédéric M Vaz;Thatjana Gardeitchik;Lisenka E L M Vissers

  • Whole exome sequencing of suspected mitochondrial patients in clinical practice

    Saskia B. Wortmann;David A. Koolen;Jan A. Smeitink;Lambert van den Heuvel

  • Biochemical diagnosis of mitochondrial disorders

    Richard J. T. Rodenburg

  • Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

    Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

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

    Tom J.J. Schirris;G. Herma Renkema;Tina Ritschel;Nicol C. Voermans

  • Gene identification in the Congenital Disorders of Glycosylation type I by whole-exome sequencing

    Sharitakoemari Timal;Alexander Hoischen;Ludwig Lehle;Maciej Adamowicz

  • Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

    Jessica Nouws;Leo Nijtmans;Sander M. Houten;Mariël van den Brand

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

    Bavo Heeman;Chris Van den Haute;Sarah-Ann Aelvoet;Federica Valsecchi

Frequent Co-Authors

Jan A.M. Smeitink
Jan A.M. Smeitink Radboud University
Eva Morava
Eva Morava Mayo Clinic
Leo G. Nijtmans
Leo G. Nijtmans Radboud University
Lambert P. van den Heuvel
Lambert P. van den Heuvel Radboud University
Holger Prokisch
Holger Prokisch Technical University of Munich
Peter H. G. M. Willems
Peter H. G. M. Willems Radboud University
Tobias B. Haack
Tobias B. Haack University of Tübingen
Werner J.H. Koopman
Werner J.H. Koopman Radboud University
Ron A. Wevers
Ron A. Wevers Radboud University
Tamas Kozicz
Tamas Kozicz Mayo Clinic

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