Výsledky vyhledávání

Cloning of genomic and cDNA for mouse isovaleryl-CoA dehydrogenase (IVD) and evolutionary comparison to other known IVDs

Autor: Jerry Vockley, Al-Walid Mohsen, Thomas Reinard, Jan Willard

Publikováno v: Gene. 270:253-257

Isovaleryl-CoA dehydrogenase (IVD) is an intramitochondrial homotetrameric flavoenzyme that catalyzes the conversion of isovaleryl-CoA to 3-methylcrotonyl-CoA in the leucine catabolism pathway. Deficiency of IVD in humans causes isovaleric acidemia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::609f39c3e45ee221b89dd96569522031
https://doi.org/10.1016/s0378-1119(01)00466-8

Zobrazit plný text záznamu

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene

Autor: David I. Smith, Jan Willard, Wanguo Liu, Peter K. Rogan, Ratnam S. Seelan, Bambi D. Anderson, Jerry Vockley

Publikováno v: The American Journal of Human Genetics. 66(2):356-367

SummaryIsovaleric acidemia (IVA) is a recessive disorder caused by a deficiency of isovaleryl-CoA dehydrogenase (IVD). We have reported elsewhere nine point mutations in the IVD gene in fibroblasts of patients with IVA, which lead to abnormalities in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e64c010eb5079cf2bd4b9766d22289be

Zobrazit plný text záznamu

Cloning of a cDNA for Short/Branched Chain Acyl-Coenzyme A Dehydrogenase from Rat and Characterization of Its Tissue Expression and Substrate Specificity

Autor: Kevin P. Battaile, Jerry Vockley, Jan Willard, Rima Rozen, Caroline Vicanek, Paul P. Van Veldhoven, Abdul H. Fauq

Publikováno v: Archives of Biochemistry and Biophysics. 331:127-133

The acyl-CoA dehydrogenases are a family of related enzymes which catalyze the alpha,beta-dehydrogenation of acyl-CoA esters, transferring electrons to electron-transferring flavoprotein. A cDNA for human short/branched chain acyl-CoA dehydrogenase h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b2fd1764d8b9c8dd9585f4bde249c
https://doi.org/10.1006/abbi.1996.0290

Zobrazit plný text záznamu

Isolation and Expression of a cDNA Encoding the Precursor for a Novel Member (ACADSB) of the Acyl-CoA Dehydrogenase Gene Family

Autor: Caroline Vicanek, Rima Rozen, Katherine Fu, Beatrice Fournier, Elena Torban, Jan Willard, Renate Milos, Lawrence Low-Nang, Jerry Vockley, Lubing Zhou

Publikováno v: Genomics. 24:280-287

The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e098e430d45f7b1a166bf79fd6189242
https://doi.org/10.1006/geno.1994.1617

Zobrazit plný text záznamu

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids

Autor: Brian Berg Vandahl, Eric S. Goetzman, Al-Walid Mohsen, Regina Ensenauer, Jan Willard, Miao He, Grazia Isaya, Thomas J. Corydon, Jerry Vockley

Publikováno v: The Journal of biological chemistry. 280(37)

Unsaturated fatty acids play an important role in the prevention of human diseases such as diabetes, obesity, cancer, and neurodegeneration. However, their oxidation in vivo by acyl-CoA dehydrogenases (ACADs) that catalyze the first step of each cycl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a8216b8f48fb0f06549f217318ab694
https://pubmed.ncbi.nlm.nih.gov/16020546

Zobrazit plný text záznamu

Cloning of a gene for an acyl-CoA dehydrogenase from Pisum sativum L. and purification and characterization of its product as an isovaleryl-CoA dehydrogenase

Autor: Viktoria Janke, Hans-Jörg Jacobsen, Thomas Reinard, Jerry Vockley, Jan Willard, Fritz Buck

Publikováno v: The Journal of biological chemistry. 275(43)

Isovaleryl-CoA dehydrogenase (IVD, EC 1.3.99.10) catalyzes the third step in the catabolism of leucine in mammals. Deficiency of this enzyme leads to the clinical disorder isovaleric acidemia. IVD has been purified and characterized from human and ra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead19ac9a31de359aabbe700932a6b70
https://pubmed.ncbi.nlm.nih.gov/10913142

Zobrazit plný text záznamu

Mammalian Branched-Chain Acyl-CoA Dehydrogenases: Molecular Cloning and Characterization of Recombinant Enzymes

Autor: Jan Willard, Barbara A. Binzak, Mohsen al-W A, Abdul H. Fauq, Jerry Vockley

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45f49495a5fa367141faf2ad56bdf2f4
https://doi.org/10.1016/s0076-6879(00)24236-5

Zobrazit plný text záznamu

A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening

Autor: Dietrich Matern, René Santer, Steven D. Edland, Susan A. Berry, Barbara K. Burton, Piero Rinaldo, Regina Ensenauer, Sarah C. Grünert, Jan Willard, Jerry Vockley, S. H. Hahn, Iris Marquardt, Jörn Oliver Sass, Hans Georg Koch, Joseph C. Huey

Publikováno v: The American Journal of Human Genetics. (6):1136-1142

Isovaleric acidemia (IVA) is an inborn error of leucine metabolism that can cause significant morbidity and mortality. Since the implementation, in many states and countries, of newborn screening (NBS) by tandem mass spectrometry, IVA can now be diag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d4b57654c03339a542519d89063315

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání