Crossref
journal-article
Elsevier BV
The American Journal of Human Genetics (78)
References
46
Referenced
109
10.1016/S0960-8966(01)00308-X
/ Neuromuscul Disord / Defects of mitochondrial β-oxidation: a growing group of disorders by Vockley (2002)10.1067/S0022-3476(03)00292-0
/ J Pediatr / MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency by Spiekerkoetter (2003)10.1093/oxfordjournals.jbchem.a133651
/ J Biochem (Tokyo) / Purification and properties of rat liver acyl-CoA dehydrogenases and electron transfer flavoprotein by Furuta (1981)10.1074/jbc.M504460200
/ J Biol Chem / Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids by Ensenauer (2005)10.1016/S0006-291X(02)02336-7
/ Biochem Biophys Res Commun / Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family by Zhang (2002)10.1007/s11745-003-1087-8
/ Lipids / Why is carbon from some polyunsaturates extensively recycled into lipid synthesis? by Cunnane (2003)10.1172/JCI117947
/ J Clin Invest / Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients by Aoyama (1995)10.1006/meth.2001.1262
/ Methods / Analysis of relative gene expression data using real-time quantitative PCR and the 2−ΔΔCT method by Livak (2001){'key': '10.1086/519219_bib19', 'first-page': '533', 'article-title': 'Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia', 'volume': '375', 'author': 'Vockley', 'year': '1992', 'journal-title': 'Prog Clin Biol Res'}
/ Prog Clin Biol Res / Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia by Vockley (1992)10.1016/S0005-2760(97)00185-9
/ Biochim Biophys Acta / Human long chain, very long chain and medium chain acyl-Coa dehydrogenases are specific for the S-enantiomer of 2-methylpentadecanoyl-CoA by Battaile (1998)10.1093/clinchem/47.3.477
/ Clin Chem / Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts by Bonafe (2001)10.1203/01.PDR.0000141967.52759.83
/ Pediatr Res / Mitochondrial fatty acid β-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Tyni (2004)10.1074/jbc.M210175200
/ J Biol Chem / Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus by Friday (2003)10.1172/JCI113679
/ J Clin Invest / Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome by Corkey (1988)10.1086/302261
/ Am J Hum Genet / Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency by Andresen (1999)10.1016/j.tibs.2006.09.005
/ Trends Biochem Sci / Nonsense-mediated mRNA decay: target genes and functional diversification of effectors by Rehwinkel (2006)10.1111/j.1440-1843.2006.00800.x
/ Respirology / Biology of alveolar type II cells by Mason (2006){'key': '10.1086/519219_bib28', 'first-page': 'L19', 'article-title': 'Recycling of surfactant lipid and apoprotein-A studied by electron microscopic autoradiography', 'volume': '265', 'author': 'Young', 'year': '1993', 'journal-title': 'Am J Physiol'}
/ Am J Physiol / Recycling of surfactant lipid and apoprotein-A studied by electron microscopic autoradiography by Young (1993)10.1101/gad.1177604
/ Genes Dev / Transcriptional regulatory circuits controlling mitochondrial biogenesis and function by Kelly (2004)10.1016/S0167-4781(02)00343-3
/ Biochim Biophys Acta / Nuclear activators and coactivators in mammalian mitochondrial biogenesis by Scarpulla (2002)10.1016/S1097-2765(01)00390-2
/ Mol Cell / Cytokine stimulation of energy expenditure through p38 MAP kinase activation of PPARγ coactivator-1 by Puigserver (2001)10.1074/jbc.M206324200
/ J Biol Chem / Peroxisome proliferator-activated receptor coactivator-1α (PGC-1α) coactivates the cardiac-enriched nuclear receptors estrogen-related receptor-α and -γ. Identification of novel leucine-rich interaction motif within PGC-1α by Huss (2002)10.1172/JCI3949
/ J Clin Invest / A gender-related defect in lipid metabolism and glucose homeostasis in peroxisome proliferator-activated receptor α-deficient mice by Djouadi (1998)10.1086/430799
/ Am J Hum Genet / Single-gene disorders: what role could moonlighting enzymes play? by Sriram (2005)10.1161/01.CIR.99.10.1337
/ Circulation / Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death by Mathur (1999)10.1093/hmg/10.19.2069
/ Hum Mol Genet / Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse by Cox (2001)10.1111/j.1651-2227.1999.tb01089.x
/ Acta Paediatr / Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Tyni (1999){'key': '10.1086/519219_bib38', 'first-page': '427', 'article-title': 'Metabolic cause of Reye-like syndrome', 'volume': '102', 'author': 'Bzduch', 'year': '2001', 'journal-title': 'Bratisl Lek Listy'}
/ Bratisl Lek Listy / Metabolic cause of Reye-like syndrome by Bzduch (2001)10.1007/BF02190669
/ Eur J Pediatr / Stroke, hemiparesis and deficient mitochondrial β-oxidation by Vallee (1994)10.1038/nature04330
/ Nature / Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation by Watanabe (2006)10.1007/s10545-005-0533-8
/ J Inherit Metab Dis / Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency by Olpin (2005){'key': '10.1086/519219_bib42', 'first-page': '15', 'article-title': 'Review: metabolic cardiomyopathy and conduction system defects in children', 'volume': '34', 'author': 'Gilbert-Barness', 'year': '2004', 'journal-title': 'Ann Clin Lab Sci'}
/ Ann Clin Lab Sci / Review: metabolic cardiomyopathy and conduction system defects in children by Gilbert-Barness (2004)10.1023/A:1025995813914
/ J Inherit Metab Dis / Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies by Lundy (2003)10.1373/clinchem.2005.062000
/ Clin Chem / Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene by Das (2006)10.1016/0887-8994(94)00109-F
/ Pediatr Neurol / Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone by Tein (1995)10.1007/BF01958956
/ Eur J Pediatr / Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency by Bertini (1992)10.1080/107710497174732
/ Pediatr Pathol Lab Med / Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation by Tyni (1997)10.1371/journal.pcbi.0020004
/ PLoS Comput Biol / Unusual intron conservation near tissue-regulated exons found by splicing microarrays by Sugnet (2006)10.1101/gad.1048803
/ Genes Dev / Pre-mRNA splicing and human disease by Faustino (2003)10.1186/gb-2004-5-10-r74
/ Genome Biol / Variation in alternative splicing across human tissues by Yeo (2004)10.1542/peds.2006-0666
/ Pediatrics / Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels by Liebig (2006)10.1136/fn.85.2.F105
/ Arch Dis Child Fetal Neonatal Ed / Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies by Carpenter (2001)10.1086/320602
/ Am J Hum Genet by Andresen (2001)10.1056/NEJMra043590
/ N Engl J Med / Retinoid X receptor heterodimers in the metabolic syndrome by Shulman (2005)10.1194/jlr.R300019-JLR200
/ J Lipid Res / Effects of infection and inflammation on lipid and lipoprotein metabolism: mechanisms and consequences to the host by Khovidhunkit (2004)10.1073/pnas.0336385100
/ Proc Natl Acad Sci USA / Innate and acquired immunity intersect in a global view of the acute-phase response by Yoo (2003)
Dates
Type | When |
---|---|
Created | 18 years, 2 months ago (June 6, 2007, 3:39 p.m.) |
Deposited | 5 years, 4 months ago (April 22, 2020, 4:09 p.m.) |
Indexed | 1 month, 1 week ago (July 27, 2025, 3:48 a.m.) |
Issued | 18 years, 2 months ago (July 1, 2007) |
Published | 18 years, 2 months ago (July 1, 2007) |
Published Print | 18 years, 2 months ago (July 1, 2007) |
@article{He_2007, title={A New Genetic Disorder in Mitochondrial Fatty Acid β-Oxidation: ACAD9 Deficiency}, volume={81}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/519219}, DOI={10.1086/519219}, number={1}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={He, M. and Rutledge, S.L. and Kelly, D.R. and Palmer, C.A. and Murdoch, G. and Majumder, N. and Nicholls, R.D. and Pei, Z. and Watkins, P.A. and Vockley, J.}, year={2007}, month=jul, pages={87–103} }