[1]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1006/bbrc.1994.1302; PubMed=8135828 [NCBI, ExPASy, EBI, Israel, Japan]
Kamijo T.,
Aoyama T.,
Komiyama A.,
Hashimoto T.;
"Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.";
Biochem. Biophys. Res. Commun. 199:818-825(1994).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
DOI=10.1016/0167-4781(94)90091-4; PubMed=7918661 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Q.X.,
Baldwin G.S.;
"Structures of the human cDNA and gene encoding the 78 kDa gastrin-binding protein and of a related pseudogene.";
Biochim. Biophys. Acta 1219:567-575(1994).
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lymph;
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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SUBUNIT.
PubMed=8163672 [NCBI, ExPASy, EBI, Israel, Japan]
Kamijo T.,
Wanders R.J.,
Saudubray J.-M.,
Aoyama T.,
Komiyama A.,
Hashimoto T.;
"Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.";
J. Clin. Invest. 93:1740-1747(1994).
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[5]
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PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-756, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1016/j.cell.2006.09.026; PubMed=17081983 [NCBI, ExPASy, EBI, Israel, Japan]
Olsen J.V.,
Blagoev B.,
Gnad F.,
Macek B.,
Kumar C.,
Mortensen P.,
Mann M.;
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.";
Cell 127:635-648(2006).
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[6]
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VARIANT LCHAD DEFICIENCY GLN-510.
DOI=10.1016/0005-2760(94)90064-7; PubMed=7811722 [NCBI, ExPASy, EBI, Israel, Japan]
Ijlst L.,
Wanders R.J.A.,
Ushikubo S.,
Kamijo T.,
Hashimoto T.;
"Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein.";
Biochim. Biophys. Acta 1215:347-350(1994).
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[7]
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VARIANT AFLP GLN-510.
PubMed=7846063 [NCBI, ExPASy, EBI, Israel, Japan]
Sims H.F.,
Brackett J.C.,
Powell C.K.,
Treem W.R.,
Hale D.E.,
Bennett M.J.,
Gibson B.,
Shapiro S.,
Strauss A.W.;
"The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.";
Proc. Natl. Acad. Sci. U.S.A. 92:841-845(1995).
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[8]
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CHARACTERIZATION OF VARIANT LCHAD DEFICIENCY GLN-510.
PubMed=8770876 [NCBI, ExPASy, EBI, Israel, Japan]
Ijlst L.,
Ruiter J.P.N.,
Hoovers J.M.N.,
Jakobs M.E.,
Wanders R.J.A.;
"Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.";
J. Clin. Invest. 98:1028-1033(1996).
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[9]
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VARIANTS LCHAD DEFICIENCY PRO-342 AND GLN-510.
DOI=10.1023/A:1005310903004; PubMed=9266371 [NCBI, ExPASy, EBI, Israel, Japan]
Ijlst L.,
Oostheim W.,
Ruiter J.P.N.,
Wanders R.J.A.;
"Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.";
J. Inherit. Metab. Dis. 20:420-422(1997).
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[10]
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VARIANTS TFP DEFICIENCY ASP-282 AND ASN-305.
PubMed=9739053 [NCBI, ExPASy, EBI, Israel, Japan]
Ibdah J.A.,
Tein I.,
Dionisi-Vici C.,
Bennett M.J.,
Ijlst L.,
Gibson B.,
Wanders R.J.A.,
Strauss A.W.;
"Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.";
J. Clin. Invest. 102:1193-1199(1998).
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