| 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 |
| Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults. | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults.
Vargas-Morales JM, Guizar-Heredia R, Méndez-García AL, Palacios-Gonzalez B, Schcolnik-Cabrera A, Granados O, López-Barradas AM, Vázquez-Manjarrez N, Medina-Vera I, Aguilar-López M, Tovar-Palacio C, Ordaz-Nava G, Rocha-Viggiano AK, Medina-Cerda E, Torres N, Ordovas JM, Tovar AR, Guevara-Cruz M, Noriega LG. | 11/27/2021 |
| Six different novel genetic variants were validated in BCKDHB gene and BCKDHA gene, including c.523 T > C, c.659delA, c.550delT, c.863G > A and two gross deletions | Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X, Yang Y, Gao Q, Gao M, Lv Y, Dong R, Liu Y, Zhang K, Gai Z. | 02/9/2019 |
| pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease | In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Fernández-Lainez C, Aláez-Verson C, Ibarra-González I, Enríquez-Flores S, Carrillo-Sanchez K, Flores-Lagunes L, Guillén-López S, Belmont-Martínez L, Vela-Amieva M. | 10/6/2018 |
| Data suggest that the following genetic modifications are involved in patients with maple syrup urine disease in Iran: (1) mutation in BCKDHA (branched chain keto acid dehydrogenase E1 alpha); (2) mutation in BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta); (3) mutation in DBT (dihydrolipoamide branched chain transacylase E2; one patient). | Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Zeynalzadeh M, Tafazoli A, Aarabi A, Moghaddassian M, Ashrafzadeh F, Houshmand M, Taghehchian N, Abbaszadegan MR. | 09/8/2018 |
| we identified seven novel genetic variants: p.Leu549Pro, p.Glu564*, p.Leu641Pro in MUT, p.Tyr206Cys in PCCB, p.His194Arg, p.Val298Met in BCKDHA and p.Glu286_Met290del in BCKDHB gene. In silico and/or eukaryotic expression studies confirmed pathogenic effect of all novel genetic variants | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
Stojiljkovic M, Klaassen K, Djordjevic M, Sarajlija A, Brasil S, Kecman B, Grkovic S, Kostic J, Rodriguez-Pombo P, Desviat LR, Pavlovic S, Perez B. | 07/1/2017 |
| Five novel mutations in BCKDHA were identified in MSUD patients. | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Li X, Ding Y, Liu Y, Ma Y, Song J, Wang Q, Li M, Qin Y, Yang Y. | 09/17/2016 |
| 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 |
| Targeted parallel sequencing revealed novel mutations in the gene BCKDHA for prenatal testing of maple syrup urine disease. | Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
You Y, Sun Y, Li X, Li Y, Wei X, Chen F, Ge H, Lan Z, Zhu Q, Tang Y, Wang S, Gao Y, Jiang F, Song J, Shi Q, Zhu X, Mu F, Dong W, Gao V, Jiang H, Yi X, Wang W, Gao Z. | 04/11/2015 |
| Data from infant/her heterozygous parents (first cousins) suggest homozygous mutation (S144I) in BCKDHA can result in maple syrup urine disease (IA); molecular modeling suggests this missense mutation in exon 4 affects protein stability. [CASE STUDY] | Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
Ali EZ, Yunus ZM, Desa NM, Hock NL. | 08/16/2014 |
| Case Report: functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene in maple syrup urine disease. | Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. | 04/12/2014 |
| A list of nine primary candidate genes for T2D and five for obesity were identified in this paper. Two genes, LPL and BCKDHA, were common to these two sets. | Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
Tiffin N, Adie E, Turner F, Brunner HG, van Driel MA, Oti M, Lopez-Bigas N, Ouzounis C, Perez-Iratxeta C, Andrade-Navarro MA, Adeyemo A, Patti ME, Semple CA, Hide W., Free PMC Article | 03/25/2014 |
| BCKDHA and BCKDHB mutations might be primarily responsible for maple syrup urine disease in the Indian population. | Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β.
Bashyam MD, Chaudhary AK, Sinha M, Nagarajaram HA, Devi AR, Bashyam L, Reddy EC, Dalal A. | 01/12/2013 |
| autism presenting with intellectual disability and epilepsy caused by BCKDK mutations represents a potentially treatable syndrome. | Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG., Free PMC Article | 11/17/2012 |
| identified 4 novel mutations of the BCKDHA gene in 3 Korean newborns; to the best of knowledge, this is the first report of maple syrup urine disease confirmed by genetic analysis in Korea | Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park HD, Lee DH, Hong YH, Kang DH, Lee YK, Song J, Lee SY, Kim JW, Ki CS, Lee YW. | 03/3/2012 |
| Case Report: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. | Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
Quental S, Martins E, Vilarinho L, Amorim A, João Prata M. | 01/14/2012 |
| 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 |
| Observational study of genetic testing. (HuGE Navigator) | DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.
Carleton SM, Peck DS, Grasela J, Dietiker KL, Phillips CL., Free PMC Article | 04/7/2010 |
| five mutations, three of them novel, responsible for maple syrup urine disease | Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Georgiou T, Chuang JL, Wynn RM, Stylianidou G, Korson M, Chuang DT, Drousiotou A., Free PMC Article | 03/8/2010 |
| A founder mutation in the BCKDHA is responsible for the high incidence of the maple syrup urine disease among Portuguese Gypsies. | Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene.
Quental S, Gusmão A, Rodríguez-Pombo P, Ugarte M, Vilarinho L, Amorim A, Prata MJ. | 01/21/2010 |
| 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 |
| 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 |
| the conformational stability underlying the folding of this lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase | Conformational stability and thermodynamic characterization of the lipoic acid bearing domain of human mitochondrial branched chain alpha-ketoacid dehydrogenase.
Naik MT, Huang TH., Free PMC Article | 01/21/2010 |