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Biochimica Et Biophysica Acta|October 20, 1992
The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complexK S Lau, J L Chuang, W J Herring, et al.
Molecular Biology & Medicine|February 1, 1991
Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complexD T Chuang, C W Fisher, K S Lau, et al.
Birth Defects Original Article Series|January 1, 1978
Recognition in adult patients of malformations induced by folic-acid antagonistsE W Reich, R P Cox, M H Becker, et al.
Cytogenetics and Cell Genetics|January 1, 1991
Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1K S Lau, R L Eddy, T B Shows, et al.
The Journal of Biological Chemistry|February 25, 1989
Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complexC W Fisher, J L Chuang, T A Griffin, et al.
The Journal of Clinical Investigation|September 1, 1991
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complexC R Fisher, J L Chuang, R P Cox, et al.
Biochemical and Biophysical Research Communications|January 31, 1991
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34C W Fisher, K S Lau, C R Fisher, et al.
The Journal of Biological Chemistry|July 25, 1984
Catalytic and structural properties of the dihydrolipoyl transacylase component of bovine branched-chain alpha-keto acid dehydrogenaseD T Chuang, C C Hu, L S Ku, et al.
The Journal of Clinical Investigation|March 1, 1995
Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patientsJ L Chuang, J R Davie, J M Chinsky, et al.
American Journal of Human Genetics|February 1, 1993
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutationsC W Fisher, C R Fisher, J L Chuang, et al.
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