Published in Exp Gerontol on January 05, 2012
Altered proteostasis in aging and heat shock response in C. elegans revealed by analysis of the global and de novo synthesized proteome. Cell Mol Life Sci (2014) 0.94
Screen for mitochondrial DNA copy number maintenance genes reveals essential role for ATP synthase. Mol Syst Biol (2014) 0.85
Mitochondrial disorders in children: toward development of small-molecule treatment strategies. EMBO Mol Med (2016) 0.84
Composition and formation of intercellular junctions in epithelial cells. Science (2002) 2.86
Insights into the genome of large sulfur bacteria revealed by analysis of single filaments. PLoS Biol (2007) 2.69
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. Ann Neurol (2008) 2.34
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. Epilepsia (2004) 1.87
Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int (2009) 1.85
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain (2009) 1.71
Early clinical experiences with the new influenza A (H1N1/09). Dtsch Arztebl Int (2009) 1.65
An anaerobic mitochondrion that produces hydrogen. Nature (2005) 1.64
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
The PGL family proteins associate with germ granules and function redundantly in Caenorhabditis elegans germline development. Genetics (2004) 1.61
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. J Biol Chem (2007) 1.56
ELT-2 is the predominant transcription factor controlling differentiation and function of the C. elegans intestine, from embryo to adult. Dev Biol (2008) 1.55
Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Genes Dev (2007) 1.53
Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria. Am J Physiol Cell Physiol (2008) 1.51
Pseudotumor cerebri as an important differential diagnosis of papilledema in children. Brain Dev (2005) 1.46
Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis. Dev Med Child Neurol (2009) 1.42
The C. elegans ezrin-radixin-moesin protein ERM-1 is necessary for apical junction remodelling and tubulogenesis in the intestine. Dev Biol (2004) 1.42
Baby-walkers: an avoidable source of hazard. Lancet (2008) 1.41
Crossed cerebellar diaschisis after status epilepticus in a young child. Neuropediatrics (2012) 1.40
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
Hunter disease before and during enzyme replacement therapy. Pediatr Neurol (2011) 1.38
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
OXPHOS mutations and neurodegeneration. EMBO J (2012) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Kahalalide derivatives from the Indian sacoglossan mollusk Elysia grandifolia. J Nat Prod (2006) 1.20
NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet (2008) 1.18
Superoxide production is inversely related to complex I activity in inherited complex I deficiency. Biochim Biophys Acta (2007) 1.18
KLP-18, a Klp2 kinesin, is required for assembly of acentrosomal meiotic spindles in Caenorhabditis elegans. Mol Biol Cell (2003) 1.16
Increase of stress resistance and lifespan of Caenorhabditis elegans by quercetin. Comp Biochem Physiol B Biochem Mol Biol (2007) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Computer-assisted live cell analysis of mitochondrial membrane potential, morphology and calcium handling. Methods (2008) 1.11
Depletion of PINK1 affects mitochondrial metabolism, calcium homeostasis and energy maintenance. J Cell Sci (2011) 1.11
Effects of the flavonoids kaempferol and fisetin on thermotolerance, oxidative stress and FoxO transcription factor DAF-16 in the model organism Caenorhabditis elegans. Arch Toxicol (2007) 1.10
Life cell quantification of mitochondrial membrane potential at the single organelle level. Cytometry A (2008) 1.09
Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. J Biol Chem (2008) 1.09
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Investigations of protective effects of the flavonoids quercetin and rutin on stress resistance in the model organism Caenorhabditis elegans. Toxicology (2007) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online (2005) 1.07
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis (2011) 1.06
Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet (2008) 1.05
Molecular and functional analysis of apical junction formation in the gut epithelium of Caenorhabditis elegans. Dev Biol (2004) 1.04
Palivizumab-resistant human respiratory syncytial virus infection in infancy. Clin Infect Dis (2010) 1.04
Detection and manipulation of mitochondrial reactive oxygen species in mammalian cells. Biochim Biophys Acta (2010) 1.01
Molecular networks controlling epithelial cell polarity in development. Mech Dev (2003) 1.01
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. J Biol Chem (2004) 1.01
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem (2006) 1.01
Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit. IUBMB Life (2013) 1.01
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res (2008) 1.01
Dose- and time-dependent effects of doxorubicin on cytotoxicity, cell cycle and apoptotic cell death in human colon cancer cells. Toxicology (2010) 1.00
Increased IP3/Ca2+ signaling compensates depletion of LET-413/DLG-1 in C. elegans epithelial junction assembly. Dev Biol (2008) 0.99
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem (2003) 0.99
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. PLoS One (2009) 0.99
Maintenance of the intestinal tube in Caenorhabditis elegans: the role of the intermediate filament protein IFC-2. Differentiation (2008) 0.99
Human Golgi antiapoptotic protein modulates intracellular calcium fluxes. Mol Biol Cell (2009) 0.99
Fatal glioblastoma multiforme in a patient with neurofibromatosis type I: the dilemma of systematic medical follow-up. Childs Nerv Syst (2006) 0.98
C. elegans ATAD-3 is essential for mitochondrial activity and development. PLoS One (2009) 0.98
Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I. Mol Genet Metab (2010) 0.98
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis (2015) 0.98
Antioxidant enzymes and apoptosis. Drug Metab Rev (2004) 0.96
Effect of the introduction of diagnosis related group systems on the distribution of admission weights in very low birthweight infants. Arch Dis Child Fetal Neonatal Ed (2010) 0.95
Intermediate filaments in Caenorhabditis elegans. Cell Motil Cytoskeleton (2009) 0.95
Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin. Pediatr Dermatol (2010) 0.95
Myricetin-mediated lifespan extension in Caenorhabditis elegans is modulated by DAF-16. Int J Mol Sci (2013) 0.94
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Ann Neurol (2002) 0.93
Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency. Curr Neurovasc Res (2004) 0.93
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency. J Mol Med (Berl) (2009) 0.93
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. Am J Med Genet A (2006) 0.93
Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol (2003) 0.92
Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase deficiency. Biochim Biophys Acta (2007) 0.92
Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis. J Biol Chem (2012) 0.92
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta (2002) 0.92
Intestinal tube formation in Caenorhabditis elegans requires vang-1 and egl-15 signaling. Dev Biol (2009) 0.92
Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology. Mitochondrion (2012) 0.92
Estrogen receptor alpha expression in podocytes mediates protection against apoptosis in-vitro and in-vivo. PLoS One (2011) 0.91
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany. Pediatrics (2002) 0.90
A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): a case report. J Med Case Rep (2008) 0.90
In Caenorhabditis elegans nanoparticle-bio-interactions become transparent: silica-nanoparticles induce reproductive senescence. PLoS One (2009) 0.90
Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency. J Inherit Metab Dis (2010) 0.90
Schwann cells from human neurofibromas show increased proliferation rates under the influence of progesterone. Pediatr Res (2008) 0.90
Trolox-sensitive reactive oxygen species regulate mitochondrial morphology, oxidative phosphorylation and cytosolic calcium handling in healthy cells. Antioxid Redox Signal (2012) 0.90
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany. Eur J Pediatr (2004) 0.90
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder. Hum Mol Genet (2009) 0.89
Clinical spectrum of the pseudotumor cerebri complex in children. Childs Nerv Syst (2009) 0.89
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency. Cell Calcium (2008) 0.89