In Vivo Functional Analysis of the Human Mitochondrial DNA Polymerase POLG Expressed in Cultured Human Cells
Spelbrink, Johannes N., Toivonen, Janne M., Hakkaart, Gerrit A.J., Kurkela, Johanna M., Cooper, Helen M., Lehtinen, Sanna K., Lecrenier, Nicolas, Back, Jaap Willem, Speijer, Dave, Foury, Françoise, Jacobs, Howard T.
Published in The Journal of biological chemistry (11.08.2000)
Published in The Journal of biological chemistry (11.08.2000)
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Journal Article
accessory subunit of mitochondrial DNA polymerase γ determines the DNA content of mitochondrial nucleoids in human cultured cells
Di Re, M, Sembongi, H, He, J, Reyes, A, Yasukawa, T, Martinsson, P, Bailey, L.J, Goffart, S, Boyd-Kirkup, J.D, Wong, T.S, Fersht, A.R, Spelbrink, J.N, Holt, I.J
Published in Nucleic acids research (01.09.2009)
Published in Nucleic acids research (01.09.2009)
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Journal Article
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
Spelbrink, Johannes N, Li, Fang-Yuan, Tiranti, Valeria, Nikali, Kaisu, Yuan, Qiu-Ping, Tariq, Muhammed, Wanrooij, Sjoerd, Garrido, Nuria, Comi, Giacomo, Morandi, Lucia, Santoro, Lucio, Toscano, Antonio, Fabrizi, Gian-Maria, Somer, Hannu, Croxen, Rebecca, Beeson, David, Poulton, Joanna, Suomalainen, Anu, Jacobs, Howard T, Zeviani, Massimo, Larsson, Catharina
Published in Nature genetics (01.07.2001)
Published in Nature genetics (01.07.2001)
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Familial mitochondrial DNA depletion in liver : haplotype analysis of candidate genes
SPELBRINK, J. N, VAN GALEN, M. J. M, ZWART, R, BAKKER, H. D, ROVIO, A, JACOBS, H. T, VAN DEN BOGERT, C
Published in Human genetics (01.03.1998)
Published in Human genetics (01.03.1998)
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The dangers of extended PCR in the clinic
Jacobs, Howard T, Kajander, Olli A, Poulton, Joanna, Spelbrink, Johannes N, Rovio, Anja, Karhunen, Pekka J
Published in Nature medicine (01.09.1999)
Published in Nature medicine (01.09.1999)
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Journal Article
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states
KAJANDER, Olli A, ROVIO, Anja T, MAJAMAA, Kari, POULTON, Joanna, SPELBRINK, Johannes N, HOLT, Lan J, KARHUNEN, Pekka J, JACOBS, Howard T
Published in Human molecular genetics (22.11.2000)
Published in Human molecular genetics (22.11.2000)
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Journal Article
Genotypic Stability, Segregation and Selection in Heteroplasmic Human Cell Lines Containing np 3243 Mutant mtDNA
Lehtinen, Sanna K, Hance, Nicole, El Meziane, Abdellatif, Juhola, M. Katariina, Juhola, K. Martti I, Karhu, Ritva, Spelbrink, Johannes N, Holt, Ian J, Jacobs, Howard T
Published in Genetics (Austin) (01.01.2000)
Published in Genetics (Austin) (01.01.2000)
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Journal Article
Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion
Hakonen, Anna H., Goffart, Steffi, Marjavaara, Sanna, Paetau, Anders, Cooper, Helen, Mattila, Kimmo, Lampinen, Milla, Sajantila, Antti, Lönnqvist, Tuula, Spelbrink, Johannes N., Suomalainen, Anu
Published in Human molecular genetics (01.12.2008)
Published in Human molecular genetics (01.12.2008)
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Journal Article
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals
Rovio, A, Tiranti, V, Bednarz, A L, Suomalainen, A, Spelbrink, J N, Lecrenier, N, Melberg, A, Zeviani, M, Poulton, J, Foury, F, Jacobs, H T
Published in European journal of human genetics : EJHG (01.02.1999)
Published in European journal of human genetics : EJHG (01.02.1999)
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Journal Article
Expression of the Gene for Mitoribosomal Protein S12 Is Controlled in Human Cells at the Levels of Transcription, RNA Splicing, and Translation
Mariottini, Paolo, Shah, Zahid H., Toivonen, Janne M., Bagni, Claudia, Spelbrink, Johannes N., Amaldi, Francesco, Jacobs, Howard T.
Published in The Journal of biological chemistry (05.11.1999)
Published in The Journal of biological chemistry (05.11.1999)
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Journal Article
Expression and fate of the nuclearly encoded subunits of cytochrome- c oxidase in cultured human cells depleted of mitochondrial gene products
Nijtmans, Leo G.J., Spelbrink, Johannes N., Van Galen, Mieke J.M., Zwaan, Mark, Klement, Petr, Van den Bogert, Coby
Published in Biochimica et biophysica acta (16.03.1995)
Published in Biochimica et biophysica acta (16.03.1995)
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Heteroplasmic segregation associated with trisomy-9 in cultured human cells
Lehtinen, S K, Spelbrink, J N, Jacobs, H T
Published in Somatic cell and molecular genetics (01.11.1999)
Published in Somatic cell and molecular genetics (01.11.1999)
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Journal Article
Premature ageing in mice expressing defective mitochondrial DNA polymerase
Larsson, Nils-Göran, Trifunovic, Aleksandra, Wredenberg, Anna, Falkenberg, Maria, Spelbrink, Johannes N, Rovio, Anja T, Bruder, Carl E, Bohlooly-Y, Mohammad, Gidlöf, Sebastian, Oldfors, Anders, Wibom, Rolf, Törnell, Jan, Jacobs, Howard T
Published in Nature (27.05.2004)
Published in Nature (27.05.2004)
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