4.5 Article

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

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。
Article Genetics & Heredity

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

Alexandra Gotz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemistry & Molecular Biology

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

Hibiki Kawamata et al.

HUMAN MOLECULAR GENETICS (2011)

Article Clinical Neurology

POLG1 manifestations in childhood

P. Isohanni et al.

NEUROLOGY (2011)

Review Clinical Neurology

Mitochondrial DNA depletion syndromes - Many genes, common mechanisms

Anu Suomalainen et al.

NEUROMUSCULAR DISORDERS (2010)

Article Clinical Neurology

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

Aziz Shaibani et al.

ARCHIVES OF NEUROLOGY (2009)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemical Research Methods

Fast and accurate short read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2009)

Article Biochemistry & Molecular Biology

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

Luis C. Lopez et al.

HUMAN MOLECULAR GENETICS (2009)

Article Clinical Neurology

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

Alexandra Gotz et al.

Article Biochemistry & Molecular Biology

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini et al.

Article Genetics & Heredity

What causes mitochondrial DNA deletions in human cells?

Kim J. Krishnan et al.

NATURE GENETICS (2008)

Article Clinical Neurology

Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene

Maryam Oskoui et al.

ARCHIVES OF NEUROLOGY (2006)

Article Genetics & Heredity

Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia

Matthew J. Longley et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2006)

Article Biochemistry & Molecular Biology

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

JJ Palacino et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

Article Clinical Neurology

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

RK Naviaux et al.

ANNALS OF NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

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)

Article Genetics & Heredity

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

A Saada et al.

NATURE GENETICS (2001)

Article Biochemistry & Molecular Biology

Structural basis for substrate specificities of cellular deoxyribonucleoside kinases

K Johansson et al.

NATURE STRUCTURAL BIOLOGY (2001)

Article Multidisciplinary Sciences

Role of adenine nucleotide translocator 1 in mtDNA maintenance

J Kaukonen et al.

SCIENCE (2000)