Goffart, Steffi

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

Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks

Pohjoismäki, J. L. O., Goffart, S., Tyynismaa, H., Willcox, S., Ide, T., Kang, D., Suomalainen, A., Karhunen, P. J., Griffith, J. D., Holt, I. J., et al. (2009) · Journal of Biological Chemistry

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 122

ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels

Peralta, S., Goffart, S., Williams, S. L., Diaz, F., Garcia, S., Nissanka, N., Area-Gomez, E., Pohjoismäki, J., & Moraes, C. T. (2018) · Journal of Cell Science

Mitochondrial Function and PathologyATP Synthase and ATPases Research

Cited by 110

Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

Pohjoismäki, J. L. O., Goffart, S., Taylor, R. W., Turnbull, D. M., Suomalainen, A., Jacobs, H. T., & Karhunen, P. J. (2010) · PLoS ONE

Mitochondrial Function and PathologyGenomic variations and chromosomal abnormalities

Cited by 50

Overexpression of twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species

Pohjoismäki, J. L. O., Williams, S. L., Boettger, T., Goffart, S., Kim, J., Suomalainen, A., Moraes, C. T., & Braun, T. (2013) · Proceedings of the National Academy of Sciences

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 45

Low doses of ultraviolet radiation and oxidative damage induce dramatic accumulation of mitochondrial DNA replication intermediates, fork regression, and replication initiation shift

Torregrosa-Muñumer, R., Goffart, S., Haikonen, J. A., & Pohjoismäki, J. L. O. (2015) · Molecular Biology of the Cell

Mitochondrial Function and PathologyDNA Repair Mechanisms

Cited by 42

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