Steffi Goffart

Twinkle helicase <i>(PEO1)</i> gene mutation causes mitochondrial DNA depletion

Emmanuelle Sarzi, Steffi Goffart, Valérie Serre et al. · Annals of Neurology · 2007 · 172 citations

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

Jaakko Pohjoismäki, Sjoerd Wanrooij, Anne K. Hyvärinen et al. · Nucleic Acids Research · 2006 · 165 citations · Full text

Genetics, Molecular Biology, Mitochondrial Biogenesis +16

Ciprofloxacin impairs mitochondrial DNA replication initiation through inhibition of Topoisomerase 2

Anu Hangas, Koit Aasumets, Nina J Kekäläinen et al. · Nucleic Acids Research · 2018 · 146 citations · Full text

Mitochondrial Function, Biochemistry, Mitochondrial Dna +14

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

Sjoerd Wanrooij, Steffi Goffart, Jaakko Pohjoismäki et al. · Nucleic Acids Research · 2007 · 145 citations · Full text

Intense Debate, Genetics, Molecular Biology +16

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

Steffi Goffart, Helen Cooper, Henna Tyynismaa et al. · Human Molecular Genetics · 2008 · 136 citations · Full text

Ocular Disease, Genetics, Genomic Mechanism +20