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Citations to this article

Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.
Y Matsubara, … , Y Ikeda, K Tanaka
Y Matsubara, … , Y Ikeda, K Tanaka
Published April 1, 1990
Citation Information: J Clin Invest. 1990;85(4):1058-1064. https://doi.org/10.1172/JCI114536.
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Research Article

Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.

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Abstract

Isovaleric acidemia (IVA) is caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). At least five distinct variant IVD alleles are known. We isolated five overlapping IVD cDNA clones from a human placenta cDNA library. They covered the entire coding region, except the initiation codon, and 587 bp in the 3'-noncoding region plus the poly(A) tail. The structure of the initiation site was identified by the study of genomic DNA and by the sequence comparison with rat IVD. Human IVD shared 89.6, 35.8, and 31.6% identical amino acid residues with rat IVD and human short and medium chain acyl-CoA dehydrogenases, respectively. In the Northern blot analysis of normal human liver and fibroblast poly(A)+ RNA, three mRNA species of different sizes (4.6, 3.8, and 2.1 kb) hybridized to IVD cDNA. Three mRNA species with similar sizes were also detected in five IVA fibroblast lines of different genotypes (variants 1, 1 X 2, 2, 3, and 5), suggesting that these variants are each due to a point mutation or small deletion.

Authors

Y Matsubara, M Ito, R Glassberg, S Satyabhama, Y Ikeda, K Tanaka

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Total citations by year

Year: 2017 2015 2012 2007 2001 2000 1999 1998 1997 1996 1995 1994 1993 1992 1991 1990 Total
Citations: 1 2 1 1 1 1 1 2 1 1 2 3 1 3 2 1 24
Citation information
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Citations to this article (24)

Title and authors Publication Year
Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
OK Zaki, GP C, SA Ali, GG Murad, SA Elashi, MS Ebnou, TK D, O Khalifa, R Gamal, HS el Abd, BN Nasr, H Zayed
Human Molecular Genetics 2017
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
R Schiffmann
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 2015
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia
O Sakamoto, N Arai-Ichinoi, H Mitsubuchi, Y Chinen, H Haruna, H Maruyama, H Sugawara, S Kure
The Tohoku Journal of Experimental Medicine 2015
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
JL Hertecant, I Ben-Rebeh, MA Marah, T Abbas, L Ayadi, SB Salem, FA Al-Jasmi, L Al-Gazali, SA Al-Yahyaee, BR Ali
European Journal of Medical Genetics 2012
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia
YW Lee, DH Lee, J Vockley, ND Kim, YK Lee, CS Ki
Molecular Genetics and Metabolism 2007
Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs
JM Willard, T Reinard, AW Mohsen, J Vockley
Gene 2001
Quantitative determination of ceramide using diglyceride kinase
DK Perry, A Bielawska, YA Hannun
Methods in enzymology 2000
Isolation and characterisation of a cDNA encoding the precursor for a novel member of the Acyl-CoA dehydrogenase gene family
E Telford
Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression 1999
Developmental and tissue-specific expression of 2-methyl branched-chain enoyl CoA reductase isoforms in the parasitic nematode, Ascaris suum1Note: The nucleotide sequence reported in this paper has been submitted to the GenBank™ data base with accession number AFO19136.1
E Duran, DJ Walker, KR Johnson, PR Komuniecki, RW Komuniecki
Molecular and Biochemical Parasitology 1998
Principles of Perinatal—Neonatal Metabolism
RM Cowett
1998
Redesigning the active-site of an acyl-CoA dehydrogenase: new evidence supporting a one-base mechanism
S Dakoji, I Shin, KP Battaile, J Vockley, H Liu
Bioorganic & Medicinal Chemistry 1997
Crystal Structures of the Wild Type and the Glu376Gly/Thr255Glu Mutant of Human Medium-Chain Acyl-CoA Dehydrogenase: Influence of the Location of the Catalytic Base on Substrate Specificity
HJ Lee, M Wang, R Paschke, A Nandy, S Ghisla, JJ Kim
Biochemistry 1996
High-level expression of an altered cDNA encoding human isovaleryl-CoA dehydrogenase in Escherichia coli
AW Mohsen, J Vockley
Gene 1995
Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme
P Bross, C Jespersen, TG Jensen, BS Andresen, MJ Kristensen, V Winter, A Nandy, F Kräutle, S Ghisla, L Bolund, JJ Kim, N Gregersen
The Journal of biological chemistry 1995
Characterization of the desulfurization genes from Rhodococcus sp. strain IGTS8
SA Denome, C Oldfield, LJ Nash, KD Young
Journal of bacteriology 1994
Identification of the Catalytic Base in Long Chain Acyl-CoA Dehydrogenase
S Djordjevic, Y Dong, R Paschke, FE Frerman, AW Strauss, JJ Kim
Biochemistry 1994
Hagers Handbuch der Pharmazeutischen Praxis
M Albinus, G Amschler, U Amschler, E von Angerer, W Barthel, A Bauer, K Bauer, J Beckmann, W Beil, J Beitz, P Berscht, T Beyrich, K Binder, R Böhme, HH Borchert, F Bracher, H Bräunlich, K Brinkmann, F von Bruchhausen, K Brune, A Büge, W Christ, M Cimbollek, R Daniels, G Dannhardt, HJ Duchstein, S Ebel, K Eger, P Emig, T Erker, MS Fernandez-Alfonso, AW Frahm, M Frahm, KJ Freundt, D Geffken, U Geis, E Glusa, B Göber, J Gödicke, M Goppelt-Strübe, W Gössling, A Graul, S Greiner, A Grisk, M Grosam, M von Gruchalla, M Gütschow, A Haberkorn, E Hackenthal, A Häfner, B Haluszczynski, A Harder, S Hartmann, S Hartmann, D Heber, G Heinemeyer, A Hensel, S Hoedt-Schmidt, H Hoffmann, U Hoffmann-Schollmayer, U Holzgrabe, M Hug, W Ibrom, E Inkmann, J Jürgens, B Kaiser, DA Kalbhen, N Khudeir, W Kiefer, D Kleinsorge, C Klett, S Klett, M Klingmüller, HP Klöcking, G Kobal, A Kramer, M Kreher, G Kreutz, R Kroker, D Landsiedel-Maier, J Lehmann, MS Lehner, S Leiner, H Löwe, J Mann, D Manns, W Matthiessen, A Maurer, W Meindl, K Menges, P Messinger, HJ Mest, FP Meyer, J Mollière, R Morgenstern, W Morick, J Mössner, C Müller, D Müller, K Müller, W Müller, A Mülsch, T Netzer, M Neugebauer, U Niemeyer, P Nuhn, B Nürnberg, J Oertel, M Oettel, H Oßwald, R Ott, T Ott, T Otzen, P Pachaly, H Pelzer, KU Petersen, M Pickert, A Pies, K Pietrzik, D Preiss, H Priewer, O Queckenberg, E Reimann, J Remien, R Rettig, A Reymann, J Richter, H Rommelspacher, U Rose, G Rücker, K Schaefer, H Schlager, W Schleicher, H Schleinitz, W Schlichter, H Schmidhammer, G Schmidt, T Schmidt, J Schräder, T Schulz, G Schulze, P Schwanz, H Schwilden, M Serke, G Skopp, M Spohn, R Stahlmann, JP Stasch, C Steffen, J Steinmeyer, KH Surborg, U Sürig, I Szelenyi, R Troschütz, M Verborg, EJ Verspohl, FJ Volk, H Walther, H Weber, J Wede, M Wenzel, M Weyandt-Spangenberg, S Wich, H Winterhoff, R Wintersteiger, F Woltmann, D Youssef, A Ziegler
1994
Characterization of cDNA clones for the 2-methyl branched-chain enoyl-CoA reductase. An enzyme involved in branched-chain fatty acid synthesis in anaerobic mitochondria of the parasitic nematode Ascaris suum
E Duran, RW Komuniecki, PR Komuniecki, MJ Wheelock, MM Klingbeil, YC Ma, KR Johnson
The Journal of biological chemistry 1993
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene
K Tanaka, I Yokota, PM Coates, AW Strauss, DP Kelly, Z Zhang, N Gregersen, BS Andresen, Y Matsubara, D Curtis, YT Chen
Human Mutation 1992
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15
LD McDaniel, RA Schultz
Proceedings of the National Academy of Sciences 1992
The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors
J Vockley, M Nagao, B Parimoo, K Tanaka
The Journal of biological chemistry 1992
Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2
Y Indo, T Yang-Feng, R Glassberg, K Tanaka
Genomics 1991
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia
J Vockley, B Parimoo, K Tanaka
The American Journal of Human Genetics 1991
New nucleotide sequence data on the EMBL File Server
Nucleic Acids Research 1990

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