Published in Hum Mutat on May 01, 2005
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First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation. Mol Vis (2014) 0.75
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. Eye (Lond) (2016) 0.75
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Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC Med Genet (2017) 0.75
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
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Heterozygous OPA1 mutations in Behr syndrome. Brain (2010) 1.57
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Two-step differential expression analysis reveals a new set of genes involved in thyroid oncocytic tumors. J Clin Endocrinol Metab (2004) 1.35
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol (2007) 1.30
Structure and chromosomal distribution of human mitochondrial pseudogenes. Genomics (2002) 1.27
ANT2 isoform required for cancer cell glycolysis. J Bioenerg Biomembr (2005) 1.26
OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol (2009) 1.19
Transcriptional profiling reveals coordinated up-regulation of oxidative metabolism genes in thyroid oncocytic tumors. J Clin Endocrinol Metab (2004) 1.19
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol (2005) 1.18
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res (2010) 1.17
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol (2002) 1.14
PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. Biochem Biophys Res Commun (2003) 1.14
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Maternal smoking is associated with mitochondrial DNA depletion and respiratory chain complex III deficiency in placenta. Am J Physiol Endocrinol Metab (2005) 1.03
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain (2012) 1.03
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Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat (2003) 0.99
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Increase of mitochondrial DNA content and transcripts in early bovine embryogenesis associated with upregulation of mtTFA and NRF1 transcription factors. Reprod Biol Endocrinol (2005) 0.94
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
Experimental determination of organelle targeting-peptide cleavage sites using transient expression of green fluorescent protein translational fusions. Anal Biochem (2012) 0.92
ANT2 expression under hypoxic conditions produces opposite cell-cycle behavior in 143B and HepG2 cancer cells. Mol Carcinog (2005) 0.92
Dinitrophenol-induced mitochondrial uncoupling in vivo triggers respiratory adaptation in HepG2 cells. Biochim Biophys Acta (2005) 0.92
Effects of the cannabinoid CB1 antagonist rimonabant on hepatic mitochondrial function in rats fed a high-fat diet. Am J Physiol Endocrinol Metab (2009) 0.92
Papilloedema and MRI enhancement of the prechiasmal optic nerve at the acute stage of Leber hereditary optic neuropathy. J Neurol Neurosurg Psychiatry (2010) 0.91
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The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol (2003) 0.90
Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation. FASEB J (2011) 0.89
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Mitochondrial bioenergetic background confers a survival advantage to HepG2 cells in response to chemotherapy. Mol Carcinog (2009) 0.89
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta (2012) 0.89
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Adenine nucleotide translocator promotes oxidative phosphorylation and mild uncoupling in mitochondria after dexamethasone treatment. Am J Physiol Endocrinol Metab (2007) 0.88
MFN2, a new gene responsible for mitochondrial DNA depletion. Brain (2012) 0.87
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet (2013) 0.87
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol (2013) 0.86
Influence of intensity of food restriction on skeletal muscle mitochondrial energy metabolism in rats. Am J Physiol Endocrinol Metab (2006) 0.86
Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling. Hum Reprod (2012) 0.86
Kinetics and control of oxidative phosphorylation in rat liver mitochondria after dexamethasone treatment. Biochem J (2004) 0.86
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data. Hum Mutat (2014) 0.85
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis (2011) 0.85
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease. Neurogenetics (2009) 0.84
Fatty liver and insulin resistance in obese Zucker rats: no role for mitochondrial dysfunction. Biochimie (2008) 0.84
Sensorineural hearing loss in OPA1-linked disorders. Brain (2013) 0.84
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function. Int J Biochem Cell Biol (2012) 0.84