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Johannes Spelbrink

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Eero Lihavainen; Jarno Mäkelä; Johannes N Spelbrink; Andre S Ribeiro
Mytoe: automatic analysis of mitochondrial dynamics.
Jaakko L O Pohjoismäki; Steffi Goffart; Johannes N Spelbrink
Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.
Neli Atanassova; Javier Miralles Fusté; Sjoerd Wanrooij; Bertil Macao; Steffi Goffart; Stefan Bäckström; Géraldine Farge; Ivan Khvorostov; Nils-Göran Larsson; Johannes N Spelbrink; Maria Falkenberg
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.

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All Publications

2012: Eero Lihavainen; Jarno Mäkelä; Johannes N Spelbrink; Andre S Ribeiro
Mytoe: automatic analysis of mitochondrial dynamics.
Bioinformatics (Oxford, England) 2012;28(7):1050-1.
2011: Jaakko L O Pohjoismäki; Steffi Goffart; Johannes N Spelbrink
Replication stalling by catalytically impaired Twinkle induces mitochondrial DNA rearrangements in cultured cells.
Mitochondrion 2011;11(4):630-4.
2011: Neli Atanassova; Javier Miralles Fusté; Sjoerd Wanrooij; Bertil Macao; Steffi Goffart; Stefan Bäckström; Géraldine Farge; Ivan Khvorostov; Nils-Göran Larsson; Johannes N Spelbrink; Maria Falkenberg
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.
Human molecular genetics 2011;20(6):1212-23.
2010: Jaakko L O Pohjoismäki; J Bradley Holmes; Stuart R Wood; Ming-Yao Yang; Takehiro Yasukawa; Aurelio Reyes; Laura J Bailey; Tricia J Cluett; Steffi Goffart; Smaranda Willcox; Rachel E Rigby; Andrew P Jackson; Johannes N Spelbrink; Jack D Griffith; Robert J Crouch; Howard T Jacobs; Ian J Holt
Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid.
Journal of molecular biology 2010;397(5):1144-55.
2010: Johannes N Spelbrink
Functional organization of mammalian mitochondrial DNA in nucleoids: history, recent developments, and future challenges.
IUBMB life 2010;62(1):19-32.
2009: Julien P Duxin; Benjamin Dao; Peter Martinsson; Nina Rajala; Lionel Guittat; Judith L Campbell; Johannes N Spelbrink; Sheila A Stewart
Human Dna2 is a nuclear and mitochondrial DNA maintenance protein.
Molecular and cellular biology 2009;29(15):4274-82.
2009: Helen M Cooper; Jing-Yi Huang; Eric Verdin; Johannes N Spelbrink
A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein.
PloS one 2009;4(3):e4986.
2008: Anna H Hakonen; Steffi Goffart; Sanna Marjavaara; Anders Paetau; Helen Cooper; Kimmo Mattila; Milla Lampinen; Antti Sajantila; Tuula Lönnqvist; Johannes N Spelbrink; Anu Suomalainen
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion.
Human molecular genetics 2008;17(23):3822-35.
2008: Helen M Cooper; Johannes N Spelbrink
The human SIRT3 protein deacetylase is exclusively mitochondrial.
The Biochemical journal 2008;411(2):279-85.
2008: Kim J Krishnan; Amy K Reeve; David Samuels; Patrick F Chinnery; John K Blackwood; Robert W Taylor; Sjoerd Wanrooij; Johannes N Spelbrink; Robert N Lightowlers; Doug M Turnbull
What causes mitochondrial DNA deletions in human cells?
Nature genetics 2008;40(3):275-9.
2007: Emmanuelle Sarzi; Steffi Goffart; Valérie Serre; Dominique Chrétien; Abdelhamid Slama; Arnold Munnich; Johannes N Spelbrink; Agnès Rötig
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Annals of neurology 2007;62(6):579-87.
2007: Ian J Holt; Jiuya He; Chih-Chieh Mao; Jerome D Boyd-Kirkup; Peter Martinsson; Hiroshi Sembongi; Aurelio Reyes; Johannes N Spelbrink
Mammalian mitochondrial nucleoids: organizing an independently minded genome.
Mitochondrion 2007;7(5):311-21.
2007: Jiuya He; Chih-Chieh Mao; Aurelio Reyes; Hiroshi Sembongi; Miriam Di Re; Caroline Granycome; Andrew B Clippingdale; Ian M Fearnley; Michael Harbour; Alan J Robinson; Stefanie Reichelt; Johannes N Spelbrink; John E Walker; Ian J Holt
The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization.
The Journal of cell biology 2007;176(2):141-6.
2007: Steffi Goffart; Peter Martinsson; Florence Malka; Manuel Rojo; Johannes N Spelbrink
The mitochondria of cultured mammalian cells: II. Expression and visualization of exogenous proteins in fixed and live cells.
Methods in molecular biology (Clifton, N.J.) 2007;372():17-32.
2007: Florence Malka; Karine Auré; Steffi Goffart; Johannes N Spelbrink; Manuel Rojo
The mitochondria of cultured mammalian cells: I. Analysis by immunofluorescence microscopy, histochemistry, subcellular fractionation, and cell fusion.
Methods in molecular biology (Clifton, N.J.) 2007;372():3-16.
2007: Anne K Hyvärinen; Jaakko L O Pohjoismäki; Aurelio Reyes; Sjoerd Wanrooij; Takehiro Yasukawa; Pekka J Karhunen; Johannes N Spelbrink; Ian J Holt; Howard T Jacobs
The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA.
Nucleic acids research 2007;35(19):6458-74.
2007: Sjoerd Wanrooij; Steffi Goffart; Jaakko L O Pohjoismäki; Takehiro Yasukawa; Johannes N Spelbrink
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes.
Nucleic acids research 2007;35(10):3238-51.
2006: Bin Lu; Nuria Garrido; Johannes N Spelbrink; Carolyn K Suzuki
Tid1 isoforms are mitochondrial DnaJ-like chaperones with unique carboxyl termini that determine cytosolic fate.
The Journal of biological chemistry 2006;281(19):13150-8.
2006: Jaakko L O Pohjoismäki; Sjoerd Wanrooij; Anne K Hyvärinen; Steffi Goffart; Ian J Holt; Johannes N Spelbrink; Howard T Jacobs
Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells.
Nucleic acids research 2006;34(20):5815-28.
2005: Aleksandra Trifunovic; Anna Hansson; Anna Wredenberg; Anja T Rovio; Eric Dufour; Ivan Khvorostov; Johannes N Spelbrink; Rolf Wibom; Howard T Jacobs; Nils-Göran Larsson
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(50):17993-8.
2005: Henna Tyynismaa; Katja Peltola Mjosund; Sjoerd Wanrooij; Ilse Lappalainen; Emil Ylikallio; Anu Jalanko; Johannes N Spelbrink; Anders Paetau; Anu Suomalainen
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(49):17687-92.
2005: Kaisu Nikali; Anu Suomalainen; Juha Saharinen; Mikko Kuokkanen; Johannes N Spelbrink; Tuula Lönnqvist; Leena Peltonen
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.
Human molecular genetics 2005;14(20):2981-90.
2004: Henna Tyynismaa; Hiroshi Sembongi; Monika Bokori-Brown; Caroline Granycome; Neil Ashley; Joanna Poulton; Anu Jalanko; Johannes N Spelbrink; Ian J Holt; Anu Suomalainen
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.
Human molecular genetics 2004;13(24):3219-27.
2004: Aleksandra Trifunovic; Anna Wredenberg; Maria Falkenberg; Johannes N Spelbrink; Anja T Rovio; Carl Bruder; Mohammad Bohlooly-Y; Sebastian Gidlöf; Anders Oldfors; Rolf Wibom; Jan Törnell; Howard T Jacobs; Nils-Göran Larsson
Premature ageing in mice expressing defective mitochondrial DNA polymerase.
Nature 2004;429(6990):417-23.
2004: Sjoerd Wanrooij; Petri Luoma; Gert Van Goethem; Christine Van Broeckhoven; Anu Suomalainen; Johannes N Spelbrink
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Nucleic acids research 2004;32(10):3053-64.
2003: Mayumi Okamaoto; Takashi Ohsato; Kazuto Nakada; Kotoyo Isobe; Johannes N Spelbrink; Jun-Ichi Hayashi; Naotaka Hamasaki; Dongchon Kang
Ditercalinium chloride, a pro-anticancer drug, intimately associates with mammalian mitochondrial DNA and inhibits its replication.
Current genetics 2003;43(5):364-70.
2003: Nuria Garrido; Lorena Griparic; Eija Jokitalo; Jorma Wartiovaara; Alexander M van der Bliek; Johannes N Spelbrink
Composition and dynamics of human mitochondrial nucleoids.
Molecular biology of the cell 2003;14(4):1583-96.
2002: Marina Toompuu; Takehiro Yasukawa; Tsutomu Suzuki; Terhi Hakkinen; Johannes N Spelbrink; Kimitsuna Watanabe; Howard T Jacobs
The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover.
The Journal of biological chemistry 2002;277(25):22240-50.
2001: Johannes N Spelbrink; FY Li; Valeria Tiranti; Kaisu Nikali; Qiu-Ping Yuan; M Tariq; Sjoerd Wanrooij; Nuria Garrido; G Comi; L Morandi; L Santoro; A Toscano; G M Fabrizi; Hannu Somer; Rebecca Croxen; David Beeson; Joanna Poulton; Anu Suomalainen; Howard T Jacobs; Massimo Zeviani; Catharina Larsson
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
Nature genetics 2001;28(3):223-31.
2000: Olli A Kajander; Anja T Rovio; K Majamaa; Joanna Poulton; Johannes N Spelbrink; Ian J Holt; Pekka J Karhunen; Howard T Jacobs
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states.
Human molecular genetics 2000;9(19):2821-35.
2000: Johannes N Spelbrink; Janne Toivonen; Gerrit A J Hakkaart; J M Kurkela; H M Cooper; Saara Lehtinen; N Lecrenier; Jaap Willem Back; Dave Speijer; Françoise Foury; Howard T Jacobs
In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.
The Journal of biological chemistry 2000;275(32):24818-28.
2000: Howard T Jacobs; Saara Lehtinen; Johannes N Spelbrink
No sex please, we're mitochondria: a hypothesis on the somatic unit of inheritance of mammalian mtDNA.
BioEssays : news and reviews in molecular, cellular and developmental biology 2000;22(6):564-72.
2000: Saara Lehtinen; N Hance; A El Meziane; M K Juhola; K M Juhola; R Karhu; Johannes N Spelbrink; Ian J Holt; Howard T Jacobs
Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA.
Genetics 2000;154(1):363-80.
1999: P Mariottini; Zahid Hussain Shah; Janne Toivonen; Claudia Bagni; Johannes N Spelbrink; Francesco Amaldi; Howard T Jacobs
Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation.
The Journal of biological chemistry 1999;274(45):31853-62.
1999: Saara Lehtinen; Johannes N Spelbrink; Howard T Jacobs
Heteroplasmic segregation associated with trisomy-9 in cultured human cells.
Somatic cell and molecular genetics 1999;25(5-6):263-74.
1999: Olli A Kajander; Joanna Poulton; Johannes N Spelbrink; Anja T Rovio; P J Karhunen; H T Jacobs
The dangers of extended PCR in the clinic.
Nature medicine 1999;5(9):965-6.
1999: Anja T Rovio; Valeria Tiranti; AL Bednarz; Anu Suomalainen; Johannes N Spelbrink; N Lecrenier; Atle Melberg; Massimo Zeviani; Joanna Poulton; Françoise Foury; Howard T Jacobs
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
European journal of human genetics : EJHG 1999;7(2):140-6.
1998: Johannes N Spelbrink; M J Van Galen; R Zwart; H D Bakker; Anja T Rovio; Howard T Jacobs; C Van den Bogert
Familial mitochondrial DNA depletion in liver: haplotype analysis of candidate genes.
Human genetics 1998;102(3):327-31.
1997: Johannes N Spelbrink; R Zwart; M J Van Galen; C Van den Bogert
Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells.
Current genetics 1997;32(2):115-24.
1996: H D Bakker; H R Scholte; K P Dingemans; Johannes N Spelbrink; Frits A Wijburg; C Van den Bogert
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease.
The Journal of pediatrics 1996;128(5 Pt 1):683-7.
1996: H D Bakker; C Van den Bogert; H R Scholte; R Zwart; Frits A Wijburg; Johannes N Spelbrink
Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family.
Journal of inherited metabolic disease 1996;19(2):112-4.
1995: Johannes N Spelbrink; C Van den Bogert
The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines.
Human molecular genetics 1995;4(9):1591-6.
1995: Leo G J Nijtmans; Johannes N Spelbrink; M J Van Galen; M Zwaan; P Klement; C Van den Bogert
Expression and fate of the nuclearly encoded subunits of cytochrome-c oxidase in cultured human cells depleted of mitochondrial gene products.
Biochimica et biophysica acta 1995;1265(2-3):117-26.
1994: Johannes N Spelbrink; B A Van Oost; C Van den Bogert
The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion.
Human molecular genetics 1994;3(11):1989-97.
1992: C van den Bogert; Johannes N Spelbrink; Henk L Dekker
Relationship between culture conditions and the dependency on mitochondrial function of mammalian cell proliferation.
Journal of cellular physiology 1992;152(3):632-8.