| Role of PPAR-related genes in chronic heart failure: evidence from large populations. | Role of PPAR-related genes in chronic heart failure: evidence from large populations.
Ke ZP, Tao WQ, Zhao G, Cheng K., Free PMC Article | 11/14/2023 |
| Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase. | Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.
Madeira CA, Anselmo C, Costa JM, Bonito CA, Ferreira RJ, Santos DJVA, Wanders RJ, Vicente JB, Ventura FV, Leandro P. | 08/9/2023 |
| [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency]. | [Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].
Xiao M, Xie Z, Liu J, Li X, Zhang Q, Zhang Z, Li D. | 06/30/2023 |
| Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation. | Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Weiss KJ, Berger U, Haider M, Wagner M, Märtner EMC, Regenauer-Vandewiele S, Lotz-Havla A, Schuhmann E, Röschinger W, Maier EM. | 05/11/2023 |
| Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma. | Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.
Puca F, Yu F, Bartolacci C, Pettazzoni P, Carugo A, Huang-Hobbs E, Liu J, Zanca C, Carbone F, Del Poggetto E, Gumin J, Dasgupta P, Seth S, Srinivasan S, Lang FF, Sulman EP, Lorenzi PL, Tan L, Shan M, Tolstyka ZP, Kachman M, Zhang L, Gao S, Deem AK, Genovese G, Scaglioni PP, Lyssiotis CA, Viale A, Draetta GF., Free PMC Article | 04/2/2022 |
| Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible? | Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
Tucci S, Wagner C, Grünert SC, Matysiak U, Weinhold N, Klein J, Porta F, Spada M, Bordugo A, Rodella G, Furlan F, Sajeva A, Menni F, Spiekerkoetter U. | 01/22/2022 |
| Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling. | Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
Ma APY, Yeung CLS, Tey SK, Mao X, Wong SWK, Ng TH, Ko FCF, Kwong EML, Tang AHN, Ng IO, Cai SH, Yun JP, Yam JWP. | 12/18/2021 |
| 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 |
| In six unrelated Chinese patients with medium-chain acyl-coenzyme A dehydrogenase deficiency, six mutations were found in acyl-CoA dehydrogenase medium chain (ACADM). One mutation (c.727C>T) was novel and the others (c.158G>A, c.387+1delG, c.449_452del, c.1045C>T, and c.1085G>A) have been previously reported. | Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
Li Y, Zhu R, Liu Y, Song J, Xu J, Yang Y. | 01/4/2020 |
| Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases. | Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Tajima G, Hara K, Tsumura M, Kagawa R, Okada S, Sakura N, Hata I, Shigematsu Y, Kobayashi M. | 12/16/2017 |
| 17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain | Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula A, Garber KB, Askree SH, Hegde M, Hall PL. | 12/9/2017 |
| Subjects with neonatal symptoms, or neonatal abnormal labs, or neonatal triggers were more likely to have at least one copy of the severe c.985A>G ACADM gene mutation | 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA, Inborn Errors of Metabolism Collaborative., Free PMC Article | 12/9/2017 |
| Exclusively breastfed neonates with MCAD are at risk for early metabolic decompensation. As breastfeeding rates increase, close management of feeding difficulties is essential for all neonates awaiting newborn screening results | Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.
Ahrens-Nicklas RC, Pyle LC, Ficicioglu C., Free PMC Article | 09/16/2017 |
| The in silico structural changes in medium-chain acyl-CoA dehydrogenase (hMCAD) p.K329E variant protein affect the disturbed oligomeric profile, thermal stability, and conformational flexibility, with respect to the wild-type. | Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches.
Bonito CA, Nunes J, Leandro J, Louro F, Leandro P, Ventura FV, Guedes RC. | 06/3/2017 |
| LCHAD and MCAD are differentially expressed in maternal and fetal tissues during normal late pregnancy, which may represent a metabolic adaptation in response to physiological maternal dyslipidemia during late pregnancy. | Tissue specific expression of human fatty acid oxidation enzyme genes in late pregnancy.
Bartha JL, Bugatto F, Fernández-Deudero Á, Fernández-Macías R, Perdomo G., Free PMC Article | 04/8/2017 |
| Study determined three mutations (p.R53C, p.R281S and p.G362E) in MCAD protein predisposing for MCAD deficiency which seems to be unique to Japanese population. | Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan.
Hara K, Tajima G, Okada S, Tsumura M, Kagawa R, Shirao K, Ohno Y, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M. | 01/14/2017 |
| our study demonstrates that not all mutations identified in children with abnormal NBS profiles suggestive of MCAD deficiency result in a total loss in MCAD activity and function | Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
Koster KL, Sturm M, Herebian D, Smits SH, Spiekerkoetter U. | 11/7/2015 |
| The c.600-18G > A variant activates a cryptic splice site, which competes with the natural splice site. | Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
Grünert SC, Wehrle A, Villavicencio-Lorini P, Lausch E, Vetter B, Schwab KO, Tucci S, Spiekerkoetter U., Free PMC Article | 10/24/2015 |
| mutations in the ACADM gene lower the temperature threshold at which medium-chain acyl-CoA dehydrogenase deficiency loss-of-function occurs. | The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.
Jank JM, Maier EM, Reiβ DD, Haslbeck M, Kemter KF, Truger MS, Sommerhoff CP, Ferdinandusse S, Wanders RJ, Gersting SW, Muntau AC., Free PMC Article | 01/10/2015 |
| Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the acyl-coenzyme A dehydrogenase G985 allele, suggesting its high prevalence in this ethnic group. | Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Ventura FV, Leandro P, Luz A, Rivera IA, Silva MF, Ramos R, Rocha H, Lopes A, Fonseca H, Gaspar A, Diogo L, Martins E, Leão-Teles E, Vilarinho L, Tavares de Almeida I. | 12/20/2014 |
| Identify an ACADM founder mutation for MCADD in Saudi Arabian population. | Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS. | 04/12/2014 |
| This supports that c.1161A>G is a functional SNP, which leads to higher MCAD expression, perhaps due to improved splicing. This study is a proof of principle that synonymous SNPs are not neutral. | A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.
Bruun GH, Doktor TK, Andresen BS. | 03/22/2014 |
| medium chain acyl-CoA dehydrogenase involve in the metabolism of phenylbutyrate. | Evidence for involvement of medium chain acyl-CoA dehydrogenase in the metabolism of phenylbutyrate.
Kormanik K, Kang H, Cuebas D, Vockley J, Mohsen AW., Free PMC Article | 04/27/2013 |
| Subjects with variant ACADM genotypes and residual MCAD enzyme activities <10% should be considered to have the same risks as patients with classical ACADM genotypes | Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Touw CM, Smit GP, de Vries M, de Klerk JB, Bosch AM, Visser G, Mulder MF, Rubio-Gozalbo ME, Elvers B, Niezen-Koning KE, Wanders RJ, Waterham HR, Reijngoud DJ, Derks TG., Free PMC Article | 04/13/2013 |
| The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and the identification of new ACADM genotypes associated with asymptomatic disease variants. | Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.
Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U., Free PMC Article | 03/2/2013 |