| Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. | Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration.
Zhang C, Huang G, Yang J, Jiang Y, Huang R, Ye Z, Huang Y, Hu H, Xi X., Free PMC Article | 07/5/2023 |
| Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier. | Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier.
Alijanpour M, Jazayeri O, Soleimani Amiri S, Brosens E. | 11/12/2022 |
| Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease.
Yang J, Xiu J, Sun Y, Liu F, Shang X, Li G. | 04/16/2022 |
| The novel DBT mutation c.650-651insT was more prevalent than the deleted 4.7-kb heterozygote in the Amis population. The reported 4.7-kb deletion indicating a possible founder mutation may be preserved. | Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan.
Hou JW, Hwang TL. | 04/2/2016 |
| Deletion in DBT gene is associated with maple syrup urine disease. | Molecular characterization of maple syrup urine disease patients from Tunisia.
Jaafar N, Moleirinho A, Kerkeni E, Monastiri K, Seboui H, Amorim A, Prata MJ, Quental S. | 04/20/2013 |
| 4 novel mutations in DBT gene resulting in intermittent maple syrup urine disease in 7 Norwegian patients; pathogenic effect of the mutations is depletion of cellular protein; intermittent form of MSUD appears to be due to residual R301C mutant protein | Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L. | 01/1/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| In 37% (12 patients) of a total of 64 alleles, the supposed maple syrup urine disease-causing mutations in Turkish patients were located in the BCKDHA gene, in 44% (14 patients) in the BCKDHB gene and in 19% (6 patients) in the DBT gene. | Molecular genetics of maple syrup urine disease in the Turkish population.
Gorzelany K, Dursun A, Coşkun T, Kalkanoğlu-Sivri SH, Gökçay GF, Demirkol M, Feyen O, Wendel U. | 01/21/2010 |
| 30 Maple syrup urine disease Portuguese patients studied; 17 putative mutations have been identified (6 in BCKDHA, 5 in BCKDHB and 6 in DBT); 7 of are described for the first time. | Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S, Macedo-Ribeiro S, Matos R, Vilarinho L, Martins E, Teles EL, Rodrigues E, Diogo L, Garcia P, Eusébio F, Gaspar A, Sequeira S, Furtado F, Lança I, Amorim A, Prata MJ. | 01/21/2010 |
| Examination of the deletion mutation in the E2 (DBT) gene facilitated early MSUD diagnosis and was beneficial for the determination of the proper course of treatment. | Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Silao CL, Padilla CD, Matsuo M. | 01/21/2010 |
| in our cohort more severe enzyme & clinical phenotypes of variant maple syrup urine disease were mainly associated with specific genotypes in BCKDHA gene; milder enzyme & clinical phenotypes were associated with specific genotypes in BCKDHB & DBT genes | Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N, Feyen O, Fend S, Simon E, Schadewaldt P, Wendel U. | 01/21/2010 |
| a distinct subset of antimitochondrial antibodies recognize sequences on branched-chain acyltransferase which located outside of the lipoyl binding domain, in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis | Characterization of a lipoyl domain-independent B-cell autoepitope on the human branched-chain acyltransferase in primary biliary cirrhosis and overlap syndrome with autoimmune hepatitis.
Csepregi A, Obermayer-Straub P, Kneip S, Kayser A, Loges S, Schmidt E, Nemesánszky E, Szalay F, Manns MP, Strassburg CP., Free PMC Article | 01/21/2010 |
| presence of the interdomain linker restricts the motional freedom of the hbSBD more significantly than hbLBD, and that the linker region likely exists as a soft rod rather than a flexible string in solution. | Structure of the subunit binding domain and dynamics of the di-domain region from the core of human branched chain alpha-ketoacid dehydrogenase complex.
Chang CF, Chou HT, Lin YJ, Lee SJ, Chuang JL, Chuang DT, Huang TH. | 01/21/2010 |
| two novel type IB MSUD mutations in Israeli patients, which affect the E1beta subunit in the decarboxylase (E1) component of the branched-chain alpha-ketoacid dehydrogenase complex | Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel.
Wynn RM, Chuang JL, Sansaricq C, Mandel H, Chuang DT. | 10/18/2001 |
| Mutation in DBT causes a subset of maple syrup urine disease in Ashkenazi Jewish population. | Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.
Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA., Free PMC Article | 10/12/2001 |