Published in Clin Chim Acta on July 01, 1994
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain (2014) 9.30
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc Natl Acad Sci U S A (2005) 3.42
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Divergent mitochondrial biogenesis responses in human cardiomyopathy. Circulation (2013) 1.69
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet (2000) 1.68
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Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1. Biochem J (2005) 1.23
Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma. BMC Cancer (2010) 1.20
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest (2010) 1.20
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet (2009) 1.19
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet (2003) 1.17
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Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
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Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle. Cell Rep (2013) 1.11
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PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle. PLoS One (2012) 1.10
Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly. EMBO J (2012) 1.10
Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells. J Biol Chem (2008) 1.09
Clinical presentations of mitochondrial cardiomyopathies. Pediatr Cardiol (2004) 1.08
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet (1998) 1.07
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet (1996) 1.06
Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration. EMBO Rep (2005) 1.06
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Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. J Clin Invest (1999) 1.04
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RXRalpha overexpression in cardiomyocytes causes dilated cardiomyopathy but fails to rescue myocardial hypoplasia in RXRalpha-null fetuses. J Clin Invest (2000) 1.02
Efficient isolation of pure and functional mitochondria from mouse tissues using automated tissue disruption and enrichment with anti-TOM22 magnetic beads. PLoS One (2013) 1.01
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Use of human cancer cell lines mitochondria to explore the mechanisms of BH3 peptides and ABT-737-induced mitochondrial membrane permeabilization. PLoS One (2010) 1.00
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur J Hum Genet (2015) 0.98
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells. J Biol Chem (2013) 0.98
Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency. JIMD Rep (2015) 0.97
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet (2014) 0.97
Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma. Br J Cancer (2004) 0.96
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis. J Inherit Metab Dis (2012) 0.96
A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest (1996) 0.94
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Brain (2015) 0.93
Mitochondrial DNA mutations in renal cell carcinomas revealed no general impact on energy metabolism. Br J Cancer (2006) 0.93
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. Eur J Hum Genet (2010) 0.93
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochim Biophys Acta (2013) 0.92
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206. Biochem J (2004) 0.92
Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction. PLoS Genet (2013) 0.91
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Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. J Biol Chem (2010) 0.91
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD Rep (2013) 0.91
Negative regulation of mitochondrial transcription by mitochondrial topoisomerase I. Nucleic Acids Res (2013) 0.90
Large functional range of steady-state levels of nuclear and mitochondrial transcripts coding for the subunits of the human mitochondrial OXPHOS system. Genome Res (2002) 0.90
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J (2007) 0.90
Mitochondrial disorders and the kidney. Arch Dis Child (1998) 0.90
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics (2008) 0.89
Mitochondrial DNA content, an inaccurate biomarker of mitochondrial alteration in human immunodeficiency virus-related lipodystrophy. Antimicrob Agents Chemother (2008) 0.89
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. Eur J Hum Genet (2012) 0.89
Patients with sepsis exhibit increased mitochondrial respiratory capacity in peripheral blood immune cells. Crit Care (2013) 0.89
Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model. PLoS One (2015) 0.89
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet J Rare Dis (2013) 0.88
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation? J Inherit Metab Dis (1998) 0.88
Multiple presentation of mitochondrial disorders. Arch Dis Child (1999) 0.87
Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene. Nucleic Acids Res (2006) 0.87
HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. Cell Death Dis (2012) 0.87
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet (2013) 0.87
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J Inherit Metab Dis (2014) 0.87
Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10. Neurotherapeutics (2012) 0.86
Effect of antipsychotics on succinate dehydrogenase and cytochrome oxidase activities in rat brain. Naunyn Schmiedebergs Arch Pharmacol (2007) 0.86
Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol (2005) 0.86
Enterocyte cytoskeleton changes are crucial for enhanced translocation of nonpathogenic Escherichia coli across metabolically stressed gut epithelia. Infect Immun (2006) 0.86
Contribution of the phosphorylable complex I in the growth phase-dependent respiration of C6 glioma cells in vitro. J Bioenerg Biomembr (2003) 0.86
Isovaleric acid reduces Na+, K+-ATPase activity in synaptic membranes from cerebral cortex of young rats. Cell Mol Neurobiol (2007) 0.86
Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities. J Inherit Metab Dis (2003) 0.86
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging. Mamm Genome (1999) 9.96
Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet (1997) 6.08
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26
Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues. Lancet (1999) 4.20
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A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet (2000) 2.00
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