Published in Hum Mol Genet on October 29, 2008
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FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. Hum Mol Genet (2004) 2.00
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The Wnt receptor Ryk is required for Wnt5a-mediated axon guidance on the contralateral side of the corpus callosum. J Neurosci (2006) 1.89
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A (2005) 1.88
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain (2007) 1.85
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Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet (2011) 1.80
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The human SIRT3 protein deacetylase is exclusively mitochondrial. Biochem J (2008) 1.74
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res (2007) 1.69
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Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol (2007) 1.67
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Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet (2005) 1.58
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The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol (2007) 1.53
Alterations to the expression level of mitochondrial transcription factor A, TFAM, modify the mode of mitochondrial DNA replication in cultured human cells. Nucleic Acids Res (2006) 1.51
Mammalian mitochondrial DNA replication intermediates are essentially duplex but contain extensive tracts of RNA/DNA hybrid. J Mol Biol (2010) 1.50
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Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet (2009) 1.40
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet (2005) 1.38
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Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet (2011) 1.26
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet (2002) 1.25
A new splice variant of the mouse SIRT3 gene encodes the mitochondrial precursor protein. PLoS One (2009) 1.21
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat (2014) 1.17
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice. Hum Mol Genet (2011) 1.17
Ketogenic diet slows down mitochondrial myopathy progression in mice. Hum Mol Genet (2010) 1.17
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet (2007) 1.16
Efficient delivery of siRNA to cortical neurons using layered double hydroxide nanoparticles. Biomaterials (2010) 1.15
Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain (2008) 1.15
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High mitochondrial DNA copy number has detrimental effects in mice. Hum Mol Genet (2010) 1.15
Neogenin: A multi-functional receptor regulating diverse developmental processes. Int J Biochem Cell Biol (2006) 1.11
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Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks. J Biol Chem (2009) 1.09
Netrin-1: diversity in development. Int J Biochem Cell Biol (2008) 1.08
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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J Med Genet (2013) 1.02
The Netrin receptor Neogenin is required for neural tube formation and somitogenesis in zebrafish. Dev Biol (2004) 1.01
Tid1 isoforms are mitochondrial DnaJ-like chaperones with unique carboxyl termini that determine cytosolic fate. J Biol Chem (2006) 1.00
Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet (2013) 1.00
The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover. J Biol Chem (2002) 1.00
New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res (2012) 0.98
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Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia. Hum Mol Genet (2011) 0.97
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Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. Hum Mol Genet (2007) 0.96
Ryk: a novel Wnt receptor regulating axon pathfinding. Int J Biochem Cell Biol (2006) 0.95
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The netrin receptor DCC is required in the pubertal organization of mesocortical dopamine circuitry. J Neurosci (2011) 0.90