Journal article icon

Journal article

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...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1093/hmg/ddm090

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Research group:
Mitochondrial Genetics Group
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Research group:
Mitochondrial Genetics Group
Role:
Author
More by this author
Institution:
"Laboratoire de Biochimie 1, APHP, hopital de Bicetre, Le Kremlin-Bicetre, France"
Role:
Author
More by this author
Institution:
"National Neurological Institute 'C. Besta', Milano, Italy"
Department:
Division of Molecular Neurogenetics
Role:
Author
More by this author
Institution:
"Biomedicum-Helsinki, Programme of Neurosciences, Helsinki, Finland"
Role:
Author
Expand authors...
Wellcome Trust More from this funder
Royal Society More from this funder
Medical Research Council More from this funder
Publisher:
Oxford University Press Publisher's website
Journal:
Human molecular genetics Journal website
Volume:
16
Issue:
12
Pages:
1400-1411
Publication date:
2007-06-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Subjects:
UUID:
uuid:53871177-44e8-4c7a-936b-6b346a4d624f
Local pid:
ora:2402
Deposit date:
2008-10-29

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP