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

Emmanuelle Sarzi, Steffi Goffart, Valérie Serre, +5

Annals of Neurology

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, +4

Nucleic Acids Research

GeneticsMolecular BiologyMitochondrial BiogenesisExpression LevelMitochondrial Dna +14

Ciprofloxacin impairs mitochondrial DNA replication initiation through inhibition of Topoisomerase 2

Anu Hangas, Koit Aasumets, Nina J Kekäläinen, +4

Nucleic Acids Research

Mitochondrial FunctionBiochemistryMitochondrial DnaTopological HomeostasisNatural Sciences +12

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

Sjoerd Wanrooij, Steffi Goffart, Jaakko Pohjoismäki, +2

Nucleic Acids Research

Intense DebateGeneticsMolecular BiologyMolecular GeneticsCatalytic Mutants +14

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, +3

Human Molecular Genetics

Ocular DiseaseGeneticsGenomic MechanismMolecular BiologyCell Culture +18

Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion

Anna H. Hakonen, Steffi Goffart, Sanna Marjavaara, +8

Human Molecular Genetics

Mitochondrial DysfunctionNeurological DisorderGeneticsMolecular BiologyMolecular Genetics +20

Mammalian Mitochondrial DNA Replication Intermediates Are Essentially Duplex but Contain Extensive Tracts of RNA/DNA Hybrid

Jaakko Pohjoismäki, J. Bradley Holmes, Stuart Wood, +14

Journal of Molecular Biology

DnaRna/dna HybridMitochondrial FunctionContain Extensive TractsNatural Sciences +6

Human Heart Mitochondrial DNA Is Organized in Complex Catenated Networks Containing Abundant Four-way Junctions and Replication Forks

Jaakko Pohjoismäki, Steffi Goffart, Henna Tyynismaa, +8

Journal of Biological Chemistry

ChromatinDnaReplication ForksMitochondrial FunctionMitochondrial Biogenesis +11

Tissue specific differences in mitochondrial DNA maintenance and expression

Elena Herbers, Nina J Kekäläinen, Anu Hangas, +2

Mitochondrion

Mitochondrial BiogenesisMitochondrial FunctionNatural SciencesGeneticsDna Replication +7

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

Susana Peralta, Steffi Goffart, Siôn L. Williams, +6

Journal of Cell Science