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Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555
The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare organic aciduria 3-methylglutaconic aciduria type I (MGA1), but neither the enzyme nor its gene have been d …
The deficiency of the putative mitochondrial enzyme 3-methylglutaconyl-CoA hydratase associates with the rare or …
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ. IJlst L, et al. Am J Hum Genet. 2002 Dec;71(6):1463-6. doi: 10.1086/344712. Epub 2002 Nov 14. Am J Hum Genet. 2002. PMID: 12434311 Free PMC article.
This disorder is caused by a deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine degradation. ...Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G--&gt …
This disorder is caused by a deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine d …
3-methylglutaconic aciduria type I in a boy with fever-associated seizures.
Illsinger S, Lücke T, Zschocke J, Gibson KM, Das AM. Illsinger S, et al. Pediatr Neurol. 2004 Mar;30(3):213-5. doi: 10.1016/j.pediatrneurol.2003.09.016. Pediatr Neurol. 2004. PMID: 15033206
3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme A hydratase deficiency is a rare inherited metabolic disorder of l-leucine catabolism. ...Analysis of organic acids in urine indicate …
3-Methylglutaconic-aciduria type I (MGA1, OMIM 250950) resulting from 3-Methylglutaconyl-coenzyme …
AUH, a gene encoding an AU-specific RNA binding protein with intrinsic enoyl-CoA hydratase activity.
Nakagawa J, Waldner H, Meyer-Monard S, Hofsteenge J, Jenö P, Moroni C. Nakagawa J, et al. Proc Natl Acad Sci U S A. 1995 Mar 14;92(6):2051-5. doi: 10.1073/pnas.92.6.2051. Proc Natl Acad Sci U S A. 1995. PMID: 7892223 Free PMC article.
Sequence analysis revealed an unexpected homology to enoyl-CoA hydratase (EC 4.2.1.17), and the recombinant protein showed a low degree of the enzymatic activity. Thus, this gene, designated AUH, encodes an RNA binding protein with intrinsic enzymatic activit …
Sequence analysis revealed an unexpected homology to enoyl-CoA hydratase (EC 4.2.1.17), and the recombinant protein showed a l …
A small-molecule compound identified through a cell-based screening inhibits JAK/STAT pathway signaling in human cancer cells.
Kim BH, Yin CH, Guo Q, Bach EA, Lee H, Sandoval C, Jayabose S, Ulaczyk-Lesanko A, Hall DG, Baeg GH. Kim BH, et al. Mol Cancer Ther. 2008 Sep;7(9):2672-80. doi: 10.1158/1535-7163.MCT-08-0309. Mol Cancer Ther. 2008. PMID: 18790749 Free PMC article.
Therefore, the development of pharmacologic STAT signaling inhibitors has therapeutic potential in the treatment of human cancers. Here, we report 2-[(3,5-bis-trifluoromethyl-phenyl)-hydroxy-methyl]-1-(4-nitro-phenylamino)-6-phenyl-1,2,4a,7a-tetrahydro-pyrrolo[3,4-b …
Therefore, the development of pharmacologic STAT signaling inhibitors has therapeutic potential in the treatment of human cancers. Here, we …
Distinct methylation patterns in genes that affect mitochondrial function are associated with kidney disease in blood-derived DNA from individuals with Type 1 diabetes.
Swan EJ, Maxwell AP, McKnight AJ. Swan EJ, et al. Diabet Med. 2015 Aug;32(8):1110-5. doi: 10.1111/dme.12775. Epub 2015 May 10. Diabet Med. 2015. PMID: 25850930
Participants were White and diagnosed with Type 1 diabetes before 31 years of age. Genes that encode mitochondrial proteins (n = 780) were downloaded from mitoproteome.org. ...CONCLUSIONS: Differential methylation in genes that influence mitochondrial function are associat …
Participants were White and diagnosed with Type 1 diabetes before 31 years of age. Genes that encode mitochondrial proteins (n = 780) …
Analysis and sequence of the speB gene encoding agmatine ureohydrolase, a putrescine biosynthetic enzyme in Escherichia coli.
Szumanski MB, Boyle SM. Szumanski MB, et al. J Bacteriol. 1990 Feb;172(2):538-47. doi: 10.1128/jb.172.2.538-547.1990. J Bacteriol. 1990. PMID: 2153656 Free PMC article.
The speB gene of Escherichia coli encodes the enzyme agmatine ureohydrolase (AUH). AUH catalyzes the hydrolysis of agmatine to urea and putrescine in one of the two polyamine biosynthetic pathways in E. coli. ...The promoter from which the shorter transcript was pro …
The speB gene of Escherichia coli encodes the enzyme agmatine ureohydrolase (AUH). AUH catalyzes the hydrolysis of agmatine to …