28535199,12665801,9214289,7640268,1310317 - Search Results

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Subject: 28535199,12665801,9214289,7640268,1310317 - PubMed

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1992	1
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Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Zaki OK, Priya Doss C G, Ali SA, Murad GG, Elashi SA, Ebnou MSA, Kumar D T, Khalifa O, Gamal R, El Abd HSA, Nasr BN, Zayed H. Zaki OK, et al. Hum Mol Genet. 2017 Aug 15;26(16):3105-3115. doi: 10.1093/hmg/ddx195. Hum Mol Genet. 2017. PMID: 28535199

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J. Gevaert K, et al. Nat Biotechnol. 2003 May;21(5):566-9. doi: 10.1038/nbt810. Epub 2003 Mar 31. Nat Biotechnol. 2003. PMID: 12665801

Structure of human isovaleryl-CoA dehydrogenase at 2.6 A resolution: structural basis for substrate specificity,

Tiffany KA, Roberts DL, Wang M, Paschke R, Mohsen AW, Vockley J, Kim JJ. Tiffany KA, et al. Biochemistry. 1997 Jul 15;36(28):8455-64. doi: 10.1021/bi970422u. Biochemistry. 1997. PMID: 9214289

Identification of the active site catalytic residue in human isovaleryl-CoA dehydrogenase.

Mohsen AW, Vockley J. Mohsen AW, et al. Biochemistry. 1995 Aug 15;34(32):10146-52. doi: 10.1021/bi00032a007. Biochemistry. 1995. PMID: 7640268

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.

Vockley J, Nagao M, Parimoo B, Tanaka K. Vockley J, et al. J Biol Chem. 1992 Feb 5;267(4):2494-501. J Biol Chem. 1992. PMID: 1310317 Free article.

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