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The spectrum of clinical disease caused by the A467T and W748SPOLG mutations:: a study of 26 cases
Charalampos Tzoulis et al.
BRAIN (2006)
Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia
Matthew J. Longley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
A Spinazzola et al.
NATURE GENETICS (2006)
Self-complementary adeno-associated virus vectors containing a novel liver-specific human factor IX expression cassette enable highly efficient transduction of murine and nonhuman primate liver
AC Nathwani et al.
BLOOD (2006)
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
H Tyynismaa et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
K Nikali et al.
HUMAN MOLECULAR GENETICS (2005)
Mitochondrial deoxynucleotide pools in quiescent fibroblasts - A possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
P Ferraro et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
O Elpeleg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouse
A Flierl et al.
GENE THERAPY (2005)
Mitochondrial expression of the human equilibrative nucleoside transporter 1 (hENT1) results in enhanced mitochondrial toxicity of antiviral drugs
YR Lai et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy
Y Nishigaki et al.
HUMAN MOLECULAR GENETICS (2004)
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
S Wanrooij et al.
NUCLEIC ACIDS RESEARCH (2004)
Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
S Santra et al.
ANNALS OF NEUROLOGY (2004)
Premature ageing in mice expressing defective mitochondrial DNA polymerase
A Trifunovic et al.
NATURE (2004)
TWINKLE has 5′→3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein
JA Korhonen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Remarkable infidelity of polymerase γA associated with mutations in POLG1 exonuclease domain
R Del Bo et al.
NEUROLOGY (2003)
Origins of mitochondrial thymidine triphosphate: Dynamic relations to cytosolic pools
G Pontarin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts
JW Taanman et al.
HUMAN MOLECULAR GENETICS (2003)
Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools
T Kimura et al.
NATURE GENETICS (2003)
Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic β cell:: Evidence for its complexation with mitochondrial succinyl-CoA synthetase
A Kowluru et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2002)
Altered thymidine metabolism due to defects of thymidine phosphorylase
A Spinazzola et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
A Saada et al.
NATURE GENETICS (2001)
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
H Mandel et al.
NATURE GENETICS (2001)
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G Van Goethem et al.
NATURE GENETICS (2001)
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
JN Spelbrink et al.
NATURE GENETICS (2001)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)
A deoxyribonucleotidase in mitochondria: Involvement in regulation of dNTP pools and possible link to genetic disease
C Rampazzo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure
S Krähenbühl et al.
LIVER (2000)