相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
Alexandra Gotz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria
Hibiki Kawamata et al.
HUMAN MOLECULAR GENETICS (2011)
Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Emiliano Gonzalez-Vioque et al.
PLOS GENETICS (2011)
The Sugar Ring of the Nucleoside Is Required for Productive Substrate Positioning in the Active Site of Human Deoxycytidine Kinase (dCK): Implications for the Development of dCK-Activated Acyclic Guanine Analogues
Saugata Hazra et al.
JOURNAL OF MEDICINAL CHEMISTRY (2010)
Mitochondrial DNA depletion syndromes - Many genes, common mechanisms
Anu Suomalainen et al.
NEUROMUSCULAR DISORDERS (2010)
A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
Henna Tyynismaa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B
Aziz Shaibani et al.
ARCHIVES OF NEUROLOGY (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling
Steffi Goffart et al.
HUMAN MOLECULAR GENETICS (2009)
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice
Luis C. Lopez et al.
HUMAN MOLECULAR GENETICS (2009)
163rd ENMC International Workshop: Nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12–14 December 2008, Naarden, The Netherlands
Joanna Poulton et al.
NEUROMUSCULAR DISORDERS (2009)
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome
Alexandra Gotz et al.
BRAIN (2008)
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini et al.
CELL (2008)
What causes mitochondrial DNA deletions in human cells?
Kim J. Krishnan et al.
NATURE GENETICS (2008)
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions:: a novel disorder of mtDNA maintenance
Gavin Hudson et al.
BRAIN (2008)
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
Anna H. Hakonen et al.
BRAIN (2007)
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
Alice Bourdon et al.
NATURE GENETICS (2007)
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
Maryam Oskoui et al.
ARCHIVES OF NEUROLOGY (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)
Novel mutations in the thymidine kinase 2 gene (TK2) associated with fatal mitochondrial myopathy and mitochondrial DNA depletion
M Tulinius et al.
NEUROMUSCULAR DISORDERS (2005)
Kinetic analysis and ligand-induced conformational changes in dimeric and tetrameric forms of human thymidine kinase 2
JF Barroso et al.
BIOCHEMISTRY (2005)
Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
JJ Palacino et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations:: clinical and molecular genetic study
P Luoma et al.
LANCET (2004)
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
RK Naviaux et al.
ANNALS OF NEUROLOGY (2004)
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy
LY Wang et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A few amino acid substitutions can convert deoxyribonucleoside kinase specificity from pyrimidines to purines
W Knecht et al.
EMBO JOURNAL (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)
Structural basis for substrate specificities of cellular deoxyribonucleoside kinases
K Johansson et al.
NATURE STRUCTURAL BIOLOGY (2001)
Role of adenine nucleotide translocator 1 in mtDNA maintenance
J Kaukonen et al.
SCIENCE (2000)