Wanrooij, Sjoerd

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

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

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

Ribonucleotides incorporated by the yeast mitochondrial DNA polymerase are not repaired

Wanrooij, P. H., Engqvist, M. K. M., Forslund, J. M. E., Navarrete, C., Nilsson, A. K., Sedman, J., Wanrooij, S., Clausen, A. R., & Chabes, A. (2017) · Proceedings of the National Academy of Sciences

DNA Repair MechanismsMitochondrial Function and Pathology

Cited by 48