Literature DB >> 3071697

Enzyme assays with mutant cell lines of maple syrup urine disease.

D T Chuang, R P Cox.   

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Year:  1988        PMID： 3071697     DOI： 10.1016/s0076-6879(88)66020-4

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN： 0076-6879            Impact factor:   1.600


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  7 in total

1.  Down-regulation of rat mitochondrial branched-chain 2-oxoacid dehydrogenase kinase gene expression by glucocorticoids.

Authors:  Y S Huang; D T Chuang
Journal:  Biochem J       Date:  1999-05-01       Impact factor: 3.857

2.  E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1997-08-01       Impact factor: 14.808

3.  Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.

Authors:  B Zhang; H J Edenberg; D W Crabb; R A Harris
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

4.  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 complex.

Authors:  C R Fisher; J L Chuang; R P Cox; C W Fisher; R A Star; D T Chuang
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

5.  Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.

Authors:  C R Fisher; C W Fisher; D T Chuang; R P Cox
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

6.  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 patients.

Authors:  J L Chuang; J R Davie; J M Chinsky; R M Wynn; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

7.  Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.

Authors:  H Koyata; R P Cox; D T Chuang
Journal:  Biochem J       Date:  1993-11-01       Impact factor: 3.857
  7 in total

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