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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

ACAD8 acyl-CoA dehydrogenase family, member 8

Top mentioned proteins: IBD, ACID, fibrillin-1, CAN, SCAD
Papers on ACAD8
Genotype-based databases for variants causing rare diseases.
Witsch-Baumgartner et al., Innsbruck, Austria. In Gene, 2014
The created databases include ACAD8 (isobutyryl-CoA dehydrogenase deficiency (IBD)), ACADSB (short-chain acyl-CoA dehydrogenase (SCAD) deficiency), AUH (3-methylglutaconic aciduria (3-MGCA)), DHCR7 (Smith-Lemli-Opitz syndrome), HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency), HSD17B10 (17-beta-hydroxysteroid dehydrogenase X deficiency), FKBP14 (Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; EDSKMH) and ROGDI (Kohlschütter-Tönz syndrome).
A genome-wide assessment of variability in human serum metabolism.
Prince et al., Stockholm, Sweden. In Hum Mutat, 2013
Biological pathway analysis implicated ACADM, ACADS, ACAD8, ACAD10, ACAD11, and ACOXL, reflecting significant enrichment of genes with acyl-CoA dehydrogenase activity.
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
Sass et al., Freiburg, Germany. In Clin Chim Acta, 2011
Isobutyryl-coenzyme dehydrogenase (IBD) is an enzyme encoded by the ACAD8 gene and involved in the catabolism of the branched-chain amino acid valine.
Association study of cholesterol-related genes in Alzheimer's disease.
Papassotiropoulos et al., Zürich, Switzerland. In Neurogenetics, 2007
The genes HMGCS2, FDPS, RAFTLIN, ACAD8, NPC2, and ABCG1 were associated with AD at a significance level of P < or = 0.05 in this sample.
Structure of the bovine ACAD8 gene and the association of its polymorphism with the production traits.
Ren et al., Beijing, China. In J Genet Genomics, 2007
the bovine ACAD8 full-length mRNA and genomic DNA sequence were obtained and its gene structure was determined through alignment of the genomic DNA sequence to the mRNA sequence
Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
Matern et al., Rochester, United States. In Genet Med, 2007
Isobutyryl-CoA dehydrogenase deficiency was further confirmed by molecular genetic analysis of the gene encoding isobutyryl-CoA dehydrogenase (ACAD8).
Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.
Lee et al., Seoul, South Korea. In Clin Chem Lab Med, 2006
Subsequent sequencing analysis of ACAD8 gene revealed that he was compound heterozygous for a novel mutation involving the first codon (c.3G>T; Met1Ile) and a previously reported mutation (c.1000C>T; Arg334Cys).
Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.
Andresen et al., Århus, Denmark. In Pediatr Res, 2006
The isobutyryl-CoA dehydrogenase (IBD) enzyme is involved in the degradation of valine.
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
Zschocke et al., Freiburg, Germany. In J Inherit Metab Dis, 2003
One of the children is homozygous for the mutation M128I in the ACAD8 gene, which is predicted to affect the substrate binding cavity.
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
Vockley et al., Rochester, United States. In Mol Genet Metab, 2002
We have used expression in Escherichia coli to produce a previously uncharacterized ACD-like sequence (ACAD8) and define its substrate specificity.
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