World's Best Scientists 2026 revealed!
Johannes N. Spelbrink

Johannes N. Spelbrink

D-Index & Metrics

Genetics

D-Index
52
Citations
13398
World Ranking
3774
National Ranking
135

Overview

Johannes N. Spelbrink is affiliated with Radboud University in the Netherlands. Their primary research domain lies in Biochemistry, Genetics, and Molecular Biology, with 26 publications contributing to this field. More specifically, their work focuses on subfields such as Molecular Biology, Cell Biology, Geriatrics and Gerontology, Cellular and Molecular Neuroscience, and Genetics.

The scientist's research covers several main topics, including:

  • Mitochondrial Function and Pathology
  • RNA modifications and cancer
  • RNA and protein synthesis mechanisms
  • RNA Research and Splicing
  • Metabolomics and Mass Spectrometry Studies
  • Sirtuins and Resveratrol in Medicine
  • Genetic Neurodegenerative Diseases

Their recent notable publications include:

  • "Top3α is the replicative topoisomerase in mitochondrial DNA replication", 2022, Nucleic Acids Research
  • "Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome", 2022, Journal of Inherited Metabolic Disease
  • "Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa", 2020, Journal of Inherited Metabolic Disease
  • "Let's make it clear: systematic exploration of mitochondrial DNA- and RNA-protein complexes by complexome profiling", 2023, Nucleic Acids Research
  • "RNA Crosslinking to Analyze the Mitochondrial RNA-Binding Proteome", 2020, Methods in molecular biology

Johannes N. Spelbrink frequently collaborates with a set of coauthors, including:

  • Alisa Potter
  • Alfredo Cabrera-Orefice
  • Anu Hangas
  • Steffi Goffart
  • Richard J. Rodenburg

Their work has appeared in several publication venues multiple times. Frequent venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nucleic Acids Research
  • Journal of Inherited Metabolic Disease
  • Zenodo (CERN European Organization for Nuclear Research)
  • Methods in molecular biology

Best Publications

  • Premature ageing in mice expressing defective mitochondrial DNA polymerase

    Aleksandra Trifunovic;Anna Wredenberg;Maria Falkenberg;Johannes N. Spelbrink

  • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

    Johannes N. Spelbrink;Fang Yuan Li;Valeria Tiranti;Kaisu Nikali

  • Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

    Aleksandra Trifunovic;Anna Hansson;Anna Wredenberg;Anja T. Rovio

  • What causes mitochondrial DNA deletions in human cells

    Kim J Krishnan;Amy K Reeve;David C Samuels;Patrick F Chinnery

  • TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions

    Inmaculada Martínez-Reyes;Lauren P. Diebold;Hyewon Kong;Michael Schieber

  • Composition and dynamics of human mitochondrial nucleoids

    Nuria Garrido;Lorena Griparic;Eija Jokitalo;Jorma Wartiovaara

  • Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

    Henna Tyynismaa;Katja Peltola Mjosund;Sjoerd Wanrooij;Ilse Lappalainen

  • Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

    Henna Tyynismaa;Hiroshi Sembongi;Monika Bokori-Brown;Caroline Granycome

  • Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

    Kaisu Nikali;Anu Suomalainen;Juha Saharinen;Mikko Kuokkanen

  • The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization

    Jiuya He;Chih-Chieh Mao;Aurelio Reyes;Hiroshi Sembongi

  • 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

  • In Vivo Functional Analysis of the Human Mitochondrial DNA Polymerase POLG Expressed in Cultured Human Cells

    Johannes N. Spelbrink;Janne M. Toivonen;Gerrit A.J. Hakkaart;Johanna M. Kurkela

  • Human Dna2 is a nuclear and mitochondrial DNA maintenance protein.

    Julien P. Duxin;Benjamin Dao;Peter Martinsson;Nina Rajala

  • Functional organization of mammalian mitochondrial DNA in nucleoids: History, recent developments, and future challenges

    Johannes N. Spelbrink

  • Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

    Emmanuelle Sarzi;Steffi Goffart;Valérie Serre;Dominique Chrétien

  • Mammalian mitochondrial nucleoids: organizing an independently minded genome.

    Ian J. Holt;Jiuya He;Chih-Chieh Mao;Jerome D. Boyd-Kirkup

  • Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells

    Jaakko L. O. Pohjoismäki;Sjoerd Wanrooij;Anne K. Hyvärinen;Steffi Goffart

  • Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.

    Olli A. Kajander;Anja T. Rovio;Kari Majamaa;Joanna Poulton

  • Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

    Steffi Goffart;Helen M. Cooper;Henna Tyynismaa;Henna Tyynismaa;Sjoerd Wanrooij

  • Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes

    Sjoerd Wanrooij;Steffi Goffart;Jaakko L.O. Pohjoismäki;Takehiro Yasukawa

Frequent Co-Authors

Howard T. Jacobs
Howard T. Jacobs Tampere University
Anu Suomalainen
Anu Suomalainen University of Helsinki
Ian J. Holt
Ian J. Holt Medical Research Council
Joanna Poulton
Joanna Poulton University of Oxford
Richard J. Rodenburg
Richard J. Rodenburg Radboud University
Nils-Göran Larsson
Nils-Göran Larsson Karolinska Institute
Anu Jalanko
Anu Jalanko University of Helsinki
Valeria Tiranti
Valeria Tiranti Istituto Neurologico Carlo Besta
Jan A.M. Smeitink
Jan A.M. Smeitink Radboud University
Massimo Zeviani
Massimo Zeviani University of Padua

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring Genetics doesn’t always mean you have to follow a traditional path. There are numerous colleges with accelerated programs that allow you to graduate quicker and enter the workforce sooner. These programs help driven students launch careers or pursue advanced studies in less time.

If you prefer more flexibility, consider earning a degree through a self paced online degree. This option is perfect for students juggling school, work, or family responsibilities while still advancing their education in genetics or related fields such as healthcare, bioinformatics, or laboratory sciences.

Those interested in healthcare administration might look into medical billing and coding schools that accept financial aid. These online programs can lead to rewarding roles supporting hospitals and clinics, and often require less time to complete than a full degree.

Cost-conscious students can also apply to an online college no application fee, making the application process more affordable and accessible. Whatever your pathway, online learning offers versatility for those passionate about genetics and life sciences careers.

Best Scientists Citing Johannes N. Spelbrink

Trending Scientists

Recently Published Articles