Published in Pediatr Res on August 01, 2010
Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation. Biochem J (2011) 1.96
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab (2016) 1.23
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis (2013) 1.03
Integrated redox proteomics and metabolomics of mitochondria to identify mechanisms of cd toxicity. Toxicol Sci (2014) 1.03
Evaluation of the child with suspected mitochondrial liver disease. J Pediatr Gastroenterol Nutr (2013) 0.93
Gastrointestinal and hepatic manifestations of mitochondrial disorders. J Inherit Metab Dis (2013) 0.89
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. J Inherit Metab Dis (2015) 0.88
Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis (2016) 0.82
Dynamic monitoring of plasma amino acids and carnitine during chemotherapy of patients with alimentary canal malignancies and its clinical value. Onco Targets Ther (2015) 0.82
Fatty acid chain elongation in palmitate-perfused working rat heart: mitochondrial acetyl-CoA is the source of two-carbon units for chain elongation. J Biol Chem (2014) 0.79
Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr (2013) 0.78
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. Am J Hum Genet (2016) 0.77
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab (2016) 0.75
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies. Mol Genet Metab Rep (2014) 0.75
Loss of succinyl-CoA synthase ADP-forming β subunit disrupts mtDNA stability and mitochondrial dynamics in neurons. Sci Rep (2017) 0.75
Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur J Biochem (1996) 10.23
Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol (2006) 3.11
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain (2007) 2.33
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet (2005) 2.06
An internal open reading frame triggers nonsense-mediated decay of the yeast SPT10 mRNA. EMBO J (1999) 1.65
Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes. J Biol Chem (1998) 1.44
Expression of two succinyl-CoA synthetases with different nucleotide specificities in mammalian tissues. J Biol Chem (2004) 1.43
Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet (2007) 1.43
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase. Arch Biochem Biophys (2002) 1.21
Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol (2004) 1.17
Aberrant termination triggers nonsense-mediated mRNA decay. Biochem Soc Trans (2006) 1.14
Depletion of mtDNA: syndromes and genes. Mitochondrion (2006) 1.13
Succinyl-CoA synthetase is a phosphate target for the activation of mitochondrial metabolism. Biochemistry (2009) 1.12
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion (2009) 0.94
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. Eur J Pediatr (2009) 0.93
Characterization of the ATP- and GTP-specific succinyl-CoA synthetases in pigeon. The enzymes incorporate the same alpha-subunit. J Biol Chem (1998) 0.92
Detection of mutations in mtDNA. Methods Cell Biol (2007) 0.90
Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. Am J Med Genet (1999) 0.88
A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med (2007) 5.27
Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem (2006) 3.59
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation. J Inherit Metab Dis (2010) 2.47
Failure of resolution of portal fibrosis during omega-3 fatty acid lipid emulsion therapy in two patients with irreversible intestinal failure. J Pediatr (2010) 2.31
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis (2012) 2.28
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype. Hepatology (2014) 2.19
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. Brain (2014) 2.16
Presence of the metabolic syndrome in obese adolescents predicts impaired glucose tolerance and nonalcoholic fatty liver disease. J Adolesc Health (2008) 2.16
Carnitine biosynthesis in mammals. Biochem J (2002) 2.13
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA (2006) 2.11
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria. J Cell Biol (2008) 2.06
Functions and biosynthesis of plasmalogens in health and disease. Biochim Biophys Acta (2004) 2.04
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome. Mol Microbiol (2004) 1.90
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A (2004) 1.82
Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. Clin Chem (2004) 1.73
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis (2010) 1.68
Long-chain fatty acid oxidation during early human development. Pediatr Res (2005) 1.62
Feeding dysfunction in children with eosinophilic gastrointestinal diseases. Pediatrics (2010) 1.62
A role for geranylgeranylation in interleukin-1beta secretion. Arthritis Rheum (2006) 1.62
Ectopic expression of the proto-oncogene Mer in pediatric T-cell acute lymphoblastic leukemia. Clin Cancer Res (2006) 1.61
Increased levels of 4-hydroxynonenal and acrolein, neurotoxic markers of lipid peroxidation, in the brain in Mild Cognitive Impairment and early Alzheimer's disease. Neurobiol Aging (2005) 1.60
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics (2002) 1.59
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis. J Lipid Res (2005) 1.56
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism. J Biol Chem (2003) 1.54
HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood (2008) 1.54
Increased oxidative damage in nuclear and mitochondrial DNA in mild cognitive impairment. J Neurochem (2006) 1.52
University of Kentucky Sanders-Brown healthy brain aging volunteers: donor characteristics, procedures and neuropathology. Curr Alzheimer Res (2012) 1.52
The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters. FASEB J (2008) 1.51
Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta (2006) 1.51
Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid. Mol Genet Metab (2004) 1.50
Diffuse intrinsic pontine tumors: a study of primitive neuroectodermal tumors versus the more common diffuse intrinsic pontine gliomas. J Neurosurg Pediatr (2012) 1.50
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. Hum Mol Genet (2004) 1.50
Lipid peroxidation is an early event in the brain in amnestic mild cognitive impairment. Ann Neurol (2005) 1.49
Etiology of mental retardation in children referred to a tertiary care center: a prospective study. Am J Ment Retard (2005) 1.48
Recurrent inflammatory pseudotumors in children. J Pediatr Surg (2003) 1.46
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Myeloid dysplasia in familial 3-methylglutaconic aciduria. J Pediatr Hematol Oncol (2006) 1.42
Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling. Mol Cell Proteomics (2007) 1.41
Clinical and biochemical spectrum of D-bifunctional protein deficiency. Ann Neurol (2006) 1.41
Comparison of outcomes following decompressive craniectomy in children with accidental and nonaccidental blunt cranial trauma. J Neurosurg Pediatr (2012) 1.40
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Am J Hum Genet (2003) 1.40
The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome. J Biol Chem (2004) 1.39
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
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis (2012) 1.37
The enigmatic role of tafazzin in cardiolipin metabolism. Biochim Biophys Acta (2009) 1.35
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardia. Cancer Res (2006) 1.32
DNA oxidation in Alzheimer's disease. Antioxid Redox Signal (2006) 1.31
Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum (2002) 1.30
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis (2010) 1.29
Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry. Mol Genet Metab (2003) 1.28
Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome. Nephrol Dial Transplant (2003) 1.28
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. Am J Hum Genet (2006) 1.27
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet (2003) 1.27
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy. EMBO Mol Med (2010) 1.26
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder. Hum Mutat (2011) 1.23
White matter diffusion alterations in normal women at risk of Alzheimer's disease. Neurobiol Aging (2008) 1.22
Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1. Mol Immunol (2008) 1.22
Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis. Am J Hum Genet (2005) 1.22
Clinical implications of mutation analysis in primary hyperoxaluria type 1. Kidney Int (2004) 1.21
Mitochondrial long chain fatty acid beta-oxidation in man and mouse. Biochim Biophys Acta (2009) 1.20
Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients. Clin Chem (2002) 1.20
Free radical-mediated damage to brain in Alzheimer's disease and its transgenic mouse models. Free Radic Biol Med (2008) 1.19
Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat (2004) 1.18
Mutations in PEX10 are a cause of autosomal recessive ataxia. Ann Neurol (2010) 1.18
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. J Med Genet (2012) 1.17
Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes. FASEB J (2008) 1.17
Identification and characterization of human cardiolipin synthase. FEBS Lett (2006) 1.17
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr (2006) 1.17
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab (2009) 1.17
Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet (2003) 1.17
Metabolite transport across the peroxisomal membrane. Biochem J (2007) 1.16
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. Am J Med Genet A (2005) 1.16
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. J Med Genet (2010) 1.16
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab (2009) 1.16