Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

By Tyynismaa Henna   Sun Ren   Ahola-Erkkilä Sofia   Almusa Henrikki   Pöyhönen Rosanna   Korpela Mari   Honkaniemi Jari   Isohanni Pirjo   Paetau Anders   Wang Liya   Suomalainen Anu  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 66-75

Oxford University Press

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Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

By Akman Hasan O.   Dorado Beatriz   Lpez Luis C.   Garca-Cazorla ngeles   Vil Maya R.   Tanabe Lauren M.   Dauer William T.   Bonilla Eduardo   Tanji Kurenai   Hirano Michio  

Human Molecular Genetics, Vol. 17, Iss. 16, 2008-08 ,pp. : 2433-2440

Oxford University Press

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Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

By Lpez Luis C.   Akman Hasan O.   Garca-Cazorla ngeles   Dorado Beatriz   Mart Ramn   Nishino Ichizo   Tadesse Saba   Pizzorno Giuseppe   Shungu Dikoma   Bonilla Eduardo   Tanji Kurenai   Hirano Michio  

Human Molecular Genetics, Vol. 18, Iss. 4, 2009-02 ,pp. : 714-722

Oxford University Press

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Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration

By Bartesaghi Stefano   Betts-Henderson Joanne   Cain Kelvin   Dinsdale David   Zhou Xiaoshan   Karlsson Anna   Salomoni Paolo   Nicotera Pierluigi  

Human Molecular Genetics, Vol. 19, Iss. 9, 2010-05 ,pp. : 1669-1677

Oxford University Press

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Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

By Taanman J-W.  

Human Molecular Genetics, Vol. 12, Iss. 15, 2003-08 ,pp. : 1839-1845

Oxford University Press

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