ACADM Antibody

1. Our study has revealed the unique genetic backgrounds of MCAD deficiency among Japanese, based on the largest series of non-Caucasian cases. PMID: 27856190
2. 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 PMID: 27308838
3. 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 PMID: 27477829
4. 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 PMID: 27148938
5. 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. PMID: 27976856
6. 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. PMID: 27871288
7. 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. PMID: 26947917
8. 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 PMID: 24966162
9. The c.600-18G > A variant activates a cryptic splice site, which competes with the natural splice site. PMID: 26223887
10. mutations in the ACADM gene lower the temperature threshold at which medium-chain acyl-CoA dehydrogenase deficiency loss-of-function occurs. PMID: 24718418
11. 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. PMID: 23829193
12. Identify an ACADM founder mutation for MCADD in Saudi Arabian population. PMID: 20567907
13. 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. PMID: 23810226
14. medium chain acyl-CoA dehydrogenase involve in the metabolism of phenylbutyrate. PMID: 23141465
15. 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 PMID: 22630369
16. The octanoyl-CoA oxidation rate, therefore, allows a risk assessment at birth and the identification of new ACADM genotypes associated with asymptomatic disease variants. PMID: 23028790
17. A novel variant in the Medium-Chain Acyl-CoA Dehydrogenase (MCAD) gene was identified in a Greek cohort of neonates with suspected MCAD deficiency. PMID: 22683754
18. physiological concentrations of flavin adenine dinucleotide resulted in a spectacular enhancement of the thermal stabilities of MCADH and prevented enzymatic activity loss PMID: 21968293
19. The mutation in Medium-chain acyl-CoA dehydrogenase deficiency is the first report of the c.461T>G mutation in the acyl-CoA dehydrogenase gene. PMID: 21239873
20. classification of genotypes with at least one variant of unknown significance in individuals who are carriers of, or affected with, MCAD deficiency of the following genotypes: c.985A>G/wildtype, c.199T>C/c.985A>G and c.985A>G/c.985A>G PMID: 20434380
21. MCAD is induced by PGC-1 in an ERRalpha-dependent manner PMID: 12522104
22. Interference between PPARA and ERRalpha and RXRA complex heterodimer and the nuclear receptor site of MCAD PMID: 12914524
23. single arginine residue is essential for the binding of electron transferring flavoprotein to MCAD, but the single histidine residue, although involved, is not PMID: 14692513
24. first molecular identification of MCADD in an Arab patient and the first reported splice mutation in the MCAD gene that has been functionally characterized PMID: 15171999
25. Two novel rare mutations, R256T and K364R, have been investigated to assess how far the biochemical properties of the mutant proteins correlate with the clinical phenotype of medium chain acyl-CoA dehydrogenase deficiency. PMID: 16128823
26. analysis of MCAD deficiency (homozygous at c.985A>G (K329E)) complicated by acute liver failure in pregnancy [case report] PMID: 17186412
27. Measurement of MCAD activity in leukocytes or lymphocytes using phenylpropionyl-CoA as a substrate can be regarded as the gold standard to diagnose MCAD deficiency upon initial positive screening test results. PMID: 18188679
28. Six novel and seven previously reported medium chain acyl-CoA dehydrogenase mutations were detected in newborns with medium chain acyl-CoA dehydrogenase deficiency. PMID: 18241067
29. Ethnic-specific homozygous adenin/guanine substitution in an ACADM birth prevalence from a large-scale United Kingdom newborn screening study. PMID: 18927092
30. study indicates that c.449-452delCTGA represents a common mutation in Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) PMID: 19064330
31. Protein misfolding of MCAD protein is the molecular basis in medium-chain acyl-CoA dehydrogenase deficiency. PMID: 19224950
32. In the medium-chain acyl-CoA dehydrogenase, the 985G mutant and 985A normal alleles had allelic frequencies of 0.0020 and 0.9980, respectively. PMID: 19551636
33. Meta-analysis and HuGE review of genotype prevalence, gene-disease association, gene-gene interaction, and healthcare-related. (HuGE Navigator) PMID: 11263545

显示更多

收起更多

HGNC: 89

OMIM: 201450

KEGG: hsa:34

STRING: 9606.ENSP00000409612

UniGene: Hs.445040