Spelbrink, Johannes N.

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., et al. (2004) · Nature

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 2,734

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

Spelbrink, J. N., Li, F.-Y., Tiranti, V., Nikali, K., Yuan, Q.-P., Tariq, M., Wanrooij, S., Garrido, N., Comi, G., Morandi, L., et al. (2001) · Nature Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 882

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

Trifunovic, A., Hansson, A., Wredenberg, A., Rovio, A. T., Dufour, E., Khvorostov, I., Spelbrink, J. N., Wibom, R., Jacobs, H. T., & Larsson, N.-G. (2005) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyGenetics, Aging, and Longevity in Model Organisms

Cited by 555

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

Tyynismaa, H., Mjosund, K. P., Wanrooij, S., Lappalainen, I., Ylikallio, E., Jalanko, A., Spelbrink, J. N., Paetau, A., & Suomalainen, A. (2005) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 342

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

Tyynismaa, H., Sembongi, H., Bokori-Brown, M., Granycome, C., Ashley, N., Poulton, J., Jalanko, A., Spelbrink, J. N., Holt, I. J., & Suomalainen, A. (2004) · Human Molecular Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 250

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

Spelbrink, J. N., Toivonen, J. M., Hakkaart, G. A. J., Kurkela, J. M., Cooper, H. M., Lehtinen, S. K., Lecrenier, N., Back, J. W., Speijer, D., Foury, F., et al. (2000) · Journal of Biological Chemistry

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 193

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

Spelbrink, J. N. (2010) · IUBMB Life

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 171

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

Wanrooij, S., Goffart, S., Pohjoismäki, J. L. O., Yasukawa, T., & Spelbrink, J. N. (2007) · Nucleic Acids Research

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 148

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

Goffart, S., Cooper, H. M., Tyynismaa, H., Wanrooij, S., Suomalainen, A., & Spelbrink, J. N. (2009) · Human Molecular Genetics

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 138

Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?

Busch, K. B., Kowald, A., & Spelbrink, J. N. (2014) · Philosophical Transactions of the Royal Society B Biological Sciences

Mitochondrial Function and PathologyAutophagy in Disease and Therapy

Cited by 87

Let’s make it clear: Systematic exploration of mitochondrial DNA- and RNA-protein complexes by complexome profiling

Potter, A., Cabrera-Orefice, A., & Spelbrink, J. N. (2023) · Nucleic Acids Research

Mitochondrial Function and PathologyAdvanced Proteomics Techniques and Applications

Cited by 6

Let's make it clear: systematic exploration of mitochondrial DNA– and RNA–protein complexes by complexome profiling

Potter, A., Cabrera-Orefice, A., & Spelbrink, J. N. (2023) · Nucleic Acids Research

Mitochondrial Function and PathologyAdvanced Proteomics Techniques and Applications

Cited by 6

Uncharacterized protein c17orf80: a novel interactor of human mitochondrial nucleoids

Potter, A., Hangas, A., Goffart, S., Huynen, M. A., Cabrera-Orefice, A., & Spelbrink, J. N. (2022) · Journal of Cell Science

Mitochondrial Function and PathologyBiotin and Related Studies

Cited by 3