| Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling. | Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
Zhong X, Li Z, Xu Q, Peng H, Su Y, Le K, Shu Z, Liao Y, Ma Z, Pan X, Xu S, Zhou S. | 04/7/2023 |
| Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. | Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.
Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y., Free PMC Article | 03/12/2022 |
| Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease. | Effects of genetic variations in Acads gene on the risk of chronic obstructive pulmonary disease.
Yuan Y, Yang S, Deng D, Chen Y, Zhang C, Zhou R, Su Z. | 01/15/2022 |
| Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province. | Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.
Yang C, Shi C, Zhou C, Wan Q, Zhou Y, Chen X, Jin X, Huang C, Xu P., Free PMC Article | 11/6/2021 |
| The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults. | The minor C-allele of the rs2014355 variant in ACADS gene is associated with exercise-induced increase in HDL cholesterol levels in Taiwanese adults.
Yang TP, Shih FF, Hsu MY, Tsai MH, Nfor ON, Chen PH, Ho CC, Lin CC, Liaw YP., Free PMC Article | 01/30/2021 |
| ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas. | ACADS acts as a potential methylation biomarker associated with the proliferation and metastasis of hepatocellular carcinomas.
Chen D, Feng X, Lv Z, Xu X, Lu Y, Wu W, Wu H, Liu H, Cao L, Ye S, Chen J, Wu J., Free PMC Article | 10/3/2020 |
| Study discovered a high occurrence of two rare pathogenic variants-the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively especially in the Roma ethnic group. | An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Lisyová J, Chandoga J, Jungová P, Repiský M, Knapková M, Machková M, Dluholucký S, Behúlová D, Šaligová J, Potočňáková Ľ, Lysinová M, Böhmer D., Free PMC Article | 03/2/2019 |
| a link between ACADS susceptibility variants and abnormal beta-oxidation consistent with known altered kinetics of these variants | Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. | 03/17/2018 |
| Korean patients with Short-chain acyl-CoA dehydrogenase deficiency showed heterogenous clinical features and ACADS genotype. | Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
Kim YM, Cheon CK, Park KH, Park S, Kim GH, Yoo HW, Lee KA, Ko JM. | 01/14/2017 |
| Thirteen proteins had significant alteration in protein levels in patients carrying variation c.319C>T in ACADS compared to controls and they belonged to various pathways, such as the antioxidant system and amino acid metabolism. | Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J. | 02/14/2015 |
| Results show significant upregulation of LASP1 and SCAD protein levels in acute psychotic bipolar disorder samples. | Search for peripheral biomarkers in patients affected by acutely psychotic bipolar disorder: a proteomic approach.
Giusti L, Mantua V, Da Valle Y, Ciregia F, Ventroni T, Orsolini G, Donadio E, Giannaccini G, Mauri M, Cassano GB, Lucacchini A. | 01/17/2015 |
| IVD mutations in Asian populations are distinct from these in Western populations. | Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
Vatanavicharn N, Liammongkolkul S, Sakamoto O, Sathienkijkanchai A, Wasant P. | 05/26/2012 |
| physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of SCAD and prevented enzymatic activity loss | Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Lucas TG, Henriques BJ, Rodrigues JV, Bross P, Gregersen N, Gomes CM. | 01/21/2012 |
| In glucose-tolerant individuals the minor C-allele of rs2014355 of ACADS was associated with reduced measures of glucose-stimulated insulin release during an oral glucose tolerance test. | The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load.
Hornbak M, Banasik K, Justesen JM, Krarup NT, Sandholt CH, Andersson Å, Sandbæk A, Lauritzen T, Pisinger C, Witte DR, Sørensen TA, Pedersen O, Hansen T., Free PMC Article | 02/26/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| We therefore propose that SCAD misfolding leads to production of ROS, which in turn leads to fission and a grain-like structure of the mitochondrial reticulum. This finding indicates a toxic response elicited by misfolded p.Arg83Cys SCAD proteins | Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress.
Schmidt SP, Corydon TJ, Pedersen CB, Bross P, Gregersen N. | 08/16/2010 |
| Molecular pathogenesis of a novel mutation, G108D, in ACADS identified in subjects with ACADS deficiency. | Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. | 06/28/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption.
Kovanen L, Saarikoski ST, Haukka J, Pirkola S, Aromaa A, Lönnqvist J, Partonen T. CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.
Sjöholm LK, Kovanen L, Saarikoski ST, Schalling M, Lavebratt C, Partonen T. A genome-wide perspective of genetic variation in human metabolism.
Illig T, Gieger C, Zhai G, Römisch-Margl W, Wang-Sattler R, Prehn C, Altmaier E, Kastenmüller G, Kato BS, Mewes HW, Meitinger T, de Angelis MH, Kronenberg F, Soranzo N, Wichmann HE, Spector TD, Adamski J, Suhre K. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.
Englund A, Kovanen L, Saarikoski ST, Haukka J, Reunanen A, Aromaa A, Lönnqvist J, Partonen T. | 06/24/2009 |
| SCAD deficiency cause a disorder that leads to the accumulation of butyrylcarnitine and ethylmalonic acid in blood and urine. | Short-chain acyl-coenzyme A dehydrogenase deficiency.
Jethva R, Bennett MJ, Vockley J., Free PMC Article | 01/21/2010 |
| A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant short-chain acyl-coenzyme A dehydrogenase gene polymorphism. | Severe infantile hypotonia with ethylmalonic aciduria: case report.
Okuyaz C, Ezgü FS, Biberoglu G, Zeviani M, Tiranti V, Yilgör E. | 01/21/2010 |
| SCAD deficiency should be considered as a disorder of protein folding that can lead to clinical disease in combination with other genetic and environmental factors. | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. | 01/21/2010 |
| A homozygous variant allele of the SCAD gene, 625G>A, was detected in new case of short-chain acyl-CoA dehydrogenase deficiency. | A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
Battisti C, Forte F, Molinelli M, Funghini S, Pasquini E, Tassini M, Dotti MT, Federico A. | 01/21/2010 |
| The c.319C>T mutation can lead to wide clinical and biochemical phenotypic variability, suggesting a complex multifactorial/polygenic condition. This should be screened for in individuals with multicore myopathy, particularly among the Ashkenazim. | Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. | 01/21/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | See all PubMed (2) articlesThe 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
van Maldegem BT, Waterham HR, Duran M, van der Vlies M, van Woerden CS, Bobu LL, Wanders RJ, Wijburg FA. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. | 03/13/2008 |
| One of 220 SIDs cases was homozygous for the prevalent MCAD A985G mutation. | Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.
Yang Z, Lantz PE, Ibdah JA. | 01/21/2010 |