Published in Clin Chim Acta on June 02, 2006
SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet (2010) 3.07
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
DAPIT Over-Expression Modulates Glucose Metabolism and Cell Behaviour in HEK293T Cells. PLoS One (2015) 2.02
Biochemical diagnosis of mitochondrial disorders. J Inherit Metab Dis (2010) 1.95
The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS One (2009) 1.75
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. Mitochondrion (2012) 1.49
Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle. Cell Rep (2013) 1.11
PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle. PLoS One (2012) 1.10
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. EMBO Mol Med (2009) 1.05
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab (2011) 1.00
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS One (2008) 0.97
A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Hum Mol Genet (2014) 0.94
Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction. PLoS Genet (2013) 0.91
Complex III staining in blue native polyacrylamide gels. J Inherit Metab Dis (2011) 0.83
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions. Biochim Biophys Acta (2012) 0.83
HIF1α and pancreatic β-cell development. FASEB J (2012) 0.82
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice. PLoS One (2011) 0.81
3-Bromopyruvate induces rapid human prostate cancer cell death by affecting cell energy metabolism, GSH pool and the glyoxalase system. J Bioenerg Biomembr (2015) 0.78
Cardiolipin deficiency causes a dissociation of the b 6 c:caa 3 megacomplex in B. subtilis membranes. J Bioenerg Biomembr (2016) 0.77
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin. Mol Ther Nucleic Acids (2015) 0.77
A novel fission-independent role of dynamin-related protein 1 in cardiac mitochondrial respiration. Cardiovasc Res (2016) 0.75
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease. Elife (2016) 0.75
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics. Mol Genet Metab Rep (2015) 0.75
Neuroglobin Can Prevent or Reverse Glaucomatous Progression in DBA/2J Mice. Mol Ther Methods Clin Dev (2017) 0.75
Characterization of mitochondrial function in cells with impaired cystic fibrosis transmembrane conductance regulator (CFTR) function. J Bioenerg Biomembr (2016) 0.75
Functional characterization of the oxidative capacity of mitochondria and glycolytic assessment in benthic aquatic organisms. J Bioenerg Biomembr (2016) 0.75
Mitochondrial transcription factor A regulates mtDNA copy number in mammals. Hum Mol Genet (2004) 4.11
Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Cell (2007) 3.82
SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell (2013) 3.24
AIF deficiency compromises oxidative phosphorylation. EMBO J (2004) 3.19
SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet (2010) 3.07
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A (2010) 2.68
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet (2007) 2.64
Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res (2003) 2.29
Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome. J Cell Biol (2011) 2.23
S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase. Cell Metab (2007) 1.92
Persistent mitochondrial dysfunction in HIV-1-exposed but uninfected infants: clinical screening in a large prospective cohort. AIDS (2003) 1.88
Mitochondrial dysfunction following perinatal exposure to nucleoside analogues. AIDS (2006) 1.85
Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab (2002) 1.84
The Warburg effect is genetically determined in inherited pheochromocytomas. PLoS One (2009) 1.75
Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy. Mol Cell Biol (2005) 1.58
Cytochrome oxidase in health and disease. Gene (2002) 1.57
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. J Biol Chem (2003) 1.45
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome. Dev Med Child Neurol (2006) 1.41
Myofibroblast differentiation is induced in keratinocyte-fibroblast co-cultures and is antagonistically regulated by endogenous transforming growth factor-beta and interleukin-1. Am J Pathol (2004) 1.39
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab (2007) 1.38
Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction. Proc Natl Acad Sci U S A (2010) 1.37
Stabilization of hypoxia-inducible factor-1alpha protein in hypoxia occurs independently of mitochondrial reactive oxygen species production. J Biol Chem (2010) 1.33
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia. J Neurosci (2004) 1.32
Connective tissue growth factor is crucial to inducing a profibrotic environment in "fibrosis-resistant" BALB/c mouse lungs. Am J Respir Cell Mol Biol (2004) 1.31
Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. Cell Metab (2009) 1.29
Cytopathic effects of the cytomegalovirus-encoded apoptosis inhibitory protein vMIA. J Cell Biol (2006) 1.28
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. PLoS One (2009) 1.25
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal. Proc Natl Acad Sci U S A (2006) 1.24
Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions. Hum Mol Genet (2005) 1.21
Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat (2003) 1.20
Mitochondria, from cell death to proliferation. Nat Genet (2002) 1.18
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet (2003) 1.17
Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits. Mol Genet Metab (2002) 1.17
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet (2011) 1.14
Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet (2013) 1.14
Epithelial expression of profibrotic mediators in a model of allergen-induced airway remodeling. Am J Respir Cell Mol Biol (2004) 1.14
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet (2004) 1.13
Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet (2004) 1.13
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. Hum Mutat (2005) 1.13
Respiratory-chain diseases related to complex III deficiency. Biochim Biophys Acta (2008) 1.11
Disconnecting mitochondrial content from respiratory chain capacity in PGC-1-deficient skeletal muscle. Cell Rep (2013) 1.11
PGC-1α is dispensable for exercise-induced mitochondrial biogenesis in skeletal muscle. PLoS One (2012) 1.10
Smad3 signaling involved in pulmonary fibrosis and emphysema. Proc Am Thorac Soc (2006) 1.09
The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation. J Am Soc Nephrol (2003) 1.08
Mitochondrial complex I deficiency of nuclear origin I. Structural genes. Mol Genet Metab (2011) 1.07
Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis. Am J Kidney Dis (2005) 1.06
Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res (2005) 1.06
Allotopic expression of a mitochondrial alternative oxidase confers cyanide resistance to human cell respiration. EMBO Rep (2005) 1.06
Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells. EMBO Mol Med (2009) 1.05
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. Hum Mol Genet (2008) 1.03
Real-time flow cytometry analysis of permeability transition in isolated mitochondria. Exp Cell Res (2004) 1.02
Tricarboxylic acid cycle dysfunction as a cause of human diseases and tumor formation. Am J Physiol Cell Physiol (2006) 1.02
Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts. Biochem Biophys Res Commun (2003) 1.01
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab (2011) 1.00
Friedreich's ataxia: the vicious circle hypothesis revisited. BMC Med (2011) 1.00
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
Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology. J Neuropathol Exp Neurol (2007) 0.98
The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. PLoS One (2008) 0.97
Assembly of F0 in Saccharomyces cerevisiae. Biochim Biophys Acta (2008) 0.96
A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. Biochim Biophys Acta (2008) 0.96
Another observation with VATER association and a complex IV respiratory chain deficiency. Eur J Med Genet (2006) 0.96
Respiratory chain defects may present only with hypoglycemia. J Clin Endocrinol Metab (2005) 0.96
Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits. Rejuvenation Res (2007) 0.94
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet (2013) 0.94
The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Biochim Biophys Acta (2008) 0.94
Mitochondrial response to controlled nutrition in health and disease. Nutr Rev (2011) 0.93
Revisiting pitfalls, problems and tentative solutions for assaying mitochondrial respiratory chain complex III in human samples. Curr Med Chem (2004) 0.93
Quinone analogues regulate mitochondrial substrate competitive oxidation. Biochem Biophys Res Commun (2004) 0.92
Deferiprone targets aconitase: implication for Friedreich's ataxia treatment. BMC Neurol (2008) 0.92
Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency. Hum Mol Genet (2013) 0.91
Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction. PLoS Genet (2013) 0.91
Respiratory chain defects: what do we know for sure about their consequences in vivo? Biochim Biophys Acta (2004) 0.90
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. Hum Mol Genet (2013) 0.87
Glucose modulates respiratory complex I activity in response to acute mitochondrial dysfunction. J Biol Chem (2012) 0.86
Decylubiquinol impedes mitochondrial respiratory chain complex I activity. Mol Cell Biochem (2008) 0.86
Respiratory chain deficiency presenting as congenital nephrotic syndrome. Pediatr Nephrol (2005) 0.86
Mutations in the dimer interface of dihydrolipoamide dehydrogenase promote site-specific oxidative damages in yeast and human cells. J Biol Chem (2011) 0.85
Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies. Hum Mol Genet (2013) 0.85
Neuroglobin involvement in respiratory chain function and retinal ganglion cell integrity. Biochim Biophys Acta (2012) 0.85
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes. Mol Genet Metab (2011) 0.85
Clinical mitochondrial dysfunction in uninfected children born to HIV-infected mothers following perinatal exposure to nucleoside analogues. Environ Mol Mutagen (2007) 0.85
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy. Brain (2011) 0.85
Gene therapy for pulmonary diseases. Chest (2006) 0.85
Engineering the alternative oxidase gene to better understand and counteract mitochondrial defects: state of the art and perspectives. Br J Pharmacol (2014) 0.85
Molecular insights into Friedreich's ataxia and antioxidant-based therapies. Trends Mol Med (2002) 0.84
The alternative oxidase, a tool for compensating cytochrome c oxidase deficiency in human cells. Physiol Plant (2009) 0.83
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanism. Mol Cell Biol (2012) 0.83
Longevity-relevant regulation of autophagy at the level of the acetylproteome. Autophagy (2011) 0.83