[1]
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NUCLEOTIDE SEQUENCE [MRNA].
PubMed=2318964 [NCBI, ExPASy, EBI, Israel, Japan]
Matsubara Y.,
Ito M.,
Glassberg R.,
Satyabhama S.,
Ikeda Y.,
Tanaka K.;
"Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.";
J. Clin. Invest. 85:1058-1064(1990).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1086/302751; PubMed=10677295 [NCBI, ExPASy, EBI, Israel, Japan]
Vockley J.,
Rogan P.K.,
Anderson B.D.,
Willard J.,
Seelan R.S.,
Smith D.I.,
Liu W.;
"Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.";
Am. J. Hum. Genet. 66:356-367(2000).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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NUCLEOTIDE SEQUENCE OF 381-423.
DOI=10.1006/geno.1993.1111; PubMed=8468053 [NCBI, ExPASy, EBI, Israel, Japan]
Parimoo B.,
Tanaka K.;
"Structural organization of the human isovaleryl-CoA dehydrogenase gene.";
Genomics 15:582-590(1993).
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[5]
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PROTEIN SEQUENCE OF N-TERMINUS.
PubMed=1310317 [NCBI, ExPASy, EBI, Israel, Japan]
Vockley J.,
Nagao M.,
Parimoo B.,
Tanaka K.;
"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. Biol. Chem. 267:2494-2501(1992).
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[6]
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PROTEIN SEQUENCE OF 30-47.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K.,
Goethals M.,
Martens L.,
Van Damme J.,
Staes A.,
Thomas G.R.,
Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
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[7]
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ACTIVE SITE, AND MUTAGENESIS OF GLU-283.
DOI=10.1021/bi00032a007; PubMed=7640268 [NCBI, ExPASy, EBI, Israel, Japan]
Mohsen A.W.,
Vockley J.;
"Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase.";
Biochemistry 34:10146-10152(1995).
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[8]
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X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 35-421.
DOI=10.1021/bi970422u; PubMed=9214289 [NCBI, ExPASy, EBI, Israel, Japan]
Tiffany K.A.,
Roberts D.L.,
Wang M.,
Paschke R.,
Mohsen A.W.,
Vockley J.,
Kim J.-J.P.;
"Structure of human isovaleryl-CoA dehydrogenase at 2.6-A resolution: structural basis for substrate specificity.";
Biochemistry 36:8455-8464(1997).
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[9]
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VARIANTS IVA PRO-42 AND VAL-199.
PubMed=2063866 [NCBI, ExPASy, EBI, Israel, Japan]
Vockley J.,
Parimoo B.,
Tanaka K.;
"Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.";
Am. J. Hum. Genet. 49:147-157(1991).
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[10]
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VARIANTS IVA PRO-50; ASN-69; VAL-311; ARG-357; ALA-371; CYS-392 AND LEU-411.
DOI=10.1021/bi973096r; PubMed=9665741 [NCBI, ExPASy, EBI, Israel, Japan]
Mohsen A.-W.A.,
Anderson B.D.,
Volchenboum S.L.,
Battaile K.P.,
Tiffany K.A.,
Roberts D.L.,
Kim J.-J.P.,
Vockley J.;
"Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.";
Biochemistry 37:10325-10335(1998).
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