Published in J Biol Chem on April 01, 2014
The role of mitochondrial DNA mutation on neurodegenerative diseases. Exp Mol Med (2015) 0.96
A Moonlighting Human Protein Is Involved in Mitochondrial Import of tRNA. Int J Mol Sci (2015) 0.76
Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs. Nucleic Acids Res (2016) 0.75
NIH Image to ImageJ: 25 years of image analysis. Nat Methods (2012) 84.41
Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res (2003) 77.89
A guided tour into subcellular colocalization analysis in light microscopy. J Microsc (2006) 16.73
Thermodynamic parameters to predict stability of RNA/DNA hybrid duplexes. Biochemistry (1995) 6.40
An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51
Mitochondrial DNA mutations in disease and aging. Environ Mol Mutagen (2010) 3.10
RNA-based therapeutics: current progress and future prospects. Chem Biol (2012) 3.01
Quantitative colocalization analysis of multicolor confocal immunofluorescence microscopy images: pushing pixels to explore biological phenomena. Acta Histochem Cytochem (2007) 2.86
Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta (2004) 2.52
Crystal structure of the entire respiratory complex I. Nature (2013) 2.34
Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet (2002) 2.20
Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. Proc Natl Acad Sci U S A (2010) 2.10
Structure of the membrane domain of respiratory complex I. Nature (2011) 1.93
Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J Biol Chem (2003) 1.83
Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease. Proc Natl Acad Sci U S A (2005) 1.54
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet (1997) 1.53
Human mitochondrial DNA with large deletions repopulates organelles faster than full-length genomes under relaxed copy number control. Nucleic Acids Res (2002) 1.47
Recent advances in quantitative colocalization analysis: focus on neuroscience. Prog Histochem Cytochem (2009) 1.39
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet (2004) 1.29
Mitochondrial tRNA import and its consequences for mitochondrial translation. Annu Rev Biochem (2011) 1.26
Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Res (2001) 1.23
Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task? Nucleic Acids Res (2010) 1.21
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet (2003) 1.16
MitoTracker Green labeling of mitochondrial proteins and their subsequent analysis by capillary electrophoresis with laser-induced fluorescence detection. J Chromatogr B Analyt Technol Biomed Life Sci (2003) 1.14
Assessing mitochondrial potential, calcium, and redox state in isolated mammalian cells using confocal microscopy. Methods Mol Biol (2007) 1.13
Import of amber and ochre suppressor tRNAs into mammalian cells: a general approach to site-specific insertion of amino acid analogues into proteins. Proc Natl Acad Sci U S A (2001) 1.11
Organ-specific shifts in mtDNA heteroplasmy following systemic delivery of a mitochondria-targeted restriction endonuclease. Gene Ther (2010) 1.06
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet (2007) 1.05
The coupling mechanism of respiratory complex I - a structural and evolutionary perspective. Biochim Biophys Acta (2012) 1.03
Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model. Gene Ther (2007) 1.02
Two distinct structural elements of 5S rRNA are needed for its import into human mitochondria. RNA (2008) 1.01
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol (2001) 0.97
Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet (2004) 0.95
Specific features of 5S rRNA structure - its interactions with macromolecules and possible functions. Biochemistry (Mosc) (2008) 0.93
Selection of RNA aptamers imported into yeast and human mitochondria. RNA (2010) 0.93
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. Nucleic Acids Res (2011) 0.89
Mitochondrial targeting of recombinant RNAs modulates the level of a heteroplasmic mutation in human mitochondrial DNA associated with Kearns Sayre Syndrome. Nucleic Acids Res (2012) 0.89
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab (2008) 0.88
Induced tRNA import into human mitochondria: implication of a host aminoacyl-tRNA-synthetase. PLoS One (2013) 0.84
EPR detection of two protein-associated ubiquinone components (SQ(Nf) and SQ(Ns)) in the membrane in situ and in proteoliposomes of isolated bovine heart complex I. Biochim Biophys Acta (2012) 0.83
The analysis of tRNA import into mammalian mitochondria. Methods Mol Biol (2007) 0.82
Characterization of chemically modified oligonucleotides targeting a pathogenic mutation in human mitochondrial DNA. Biochimie (2013) 0.79
[Targeting allotopic material to the mitochondrial compartment: new tools for better understanding mitochondrial physiology and prospect for therapy]. Med Sci (Paris) (2007) 0.79
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet (2007) 3.55
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86
miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03
Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet (2002) 2.00
Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology (2004) 1.98
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet (2004) 1.98
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. Science (2006) 1.93
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest (2003) 1.92
Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet (2007) 1.86
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet (2008) 1.86
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab (2002) 1.84
Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood (2007) 1.84
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system. Hum Mutat (2011) 1.83
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet (2008) 1.82
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. Science (2002) 1.80
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest (2007) 1.78
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77
Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet (2005) 1.76
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. Science (2011) 1.74
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann Neurol (2007) 1.67
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet (2009) 1.61
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat (2011) 1.54
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence. Hum Mutat (2014) 1.53
Nuclear outsourcing of RNA interference components to human mitochondria. PLoS One (2011) 1.49
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. Bone (2010) 1.46
CTG trinucleotide repeat "big jumps": large expansions, small mice. PLoS Genet (2007) 1.46
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation. Eur Respir J (2012) 1.45
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications. Blood (2007) 1.44
The place of 'social sexing' in medicine and science. Hum Reprod (2002) 1.44
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet (2005) 1.41
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.38
A glycolytic enzyme, enolase, is recruited as a cofactor of tRNA targeting toward mitochondria in Saccharomyces cerevisiae. Genes Dev (2006) 1.37
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet (2002) 1.36
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat (2010) 1.34
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
Activation of peroxisome proliferator-activated receptor pathway stimulates the mitochondrial respiratory chain and can correct deficiencies in patients' cells lacking its components. J Clin Endocrinol Metab (2008) 1.34
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet (2007) 1.33
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat (2008) 1.31
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. Hum Mol Genet (2004) 1.29
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood. Pediatrics (2008) 1.29
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Inborn errors of complex II--unusual human mitochondrial diseases. Biochim Biophys Acta (2002) 1.27
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
NDP gene mutations in 14 French families with Norrie disease. Hum Mutat (2003) 1.24
Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. Blood (2008) 1.24