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Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances

Abstract:

Defects in mtDNA maintenance range from fatal multisystem childhood diseases, such as Alpers syndrome, to milder diseases in adults, including mtDNA depletion syndromes (MDS) and familial progressive external ophthalmoplegia (adPEO). Most are associated with defects in genes involved in mitochondrial deoxynucleotide metabolism or utilization, such as mutations in thymidine kinase 2 (TK2) as well as the mtDNA replicative helicase, Twinkle and gamma polymerase (POLG). We have developed an in vi...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddm090

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Institution:
University of Oxford
Research group:
Mitochondrial Genetics Group
Department:
Medical Sciences Division - Obstetrics & Gynaecology
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Institution:
University of Oxford
Research group:
Mitochondrial Genetics Group
Department:
Medical Sciences Division - Obstetrics & Gynaecology
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Institution:
"Laboratoire de Biochimie 1, APHP, hopital de Bicetre, Le Kremlin-Bicetre, France"
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Institution:
"National Neurological Institute 'C. Besta', Milano, Italy"
Department:
Division of Molecular Neurogenetics
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Institution:
"Biomedicum-Helsinki, Programme of Neurosciences, Helsinki, Finland"
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Publisher:
Oxford University Press Publisher's website
Journal:
Human molecular genetics Journal website
Volume:
16
Issue:
12
Pages:
1400-1411
Publication date:
2007-06-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:53871177-44e8-4c7a-936b-6b346a4d624f
Local pid:
ora:2402
Language:
English
Keywords:
Subjects:

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