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.

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

A simple method for displaying the hydropathic character of a protein

1982 • 22,471 citations

Release of Infectious Epstein-Barr Virus by Transformed Marmoset Leukocytes

1973 • 960 citations

A NEW SYNDROME: PROGRESSIVE FAMILIAL INFANTILE CEREBRAL DYSFUNCTION ASSOCIATED WITH AN UNUSUAL URINARY SUBSTANCE

1954 • 408 citations

The 2-oxo acid dehydrogenase complexes: recent advances

1989 • 321 citations

Epstein-Barr virus shuttle vector for stable episomal replication of cDNA expression libraries in human cells.

1988 • 154 citations

Molecular Phenotypes in Cultured Maple Syrup Urine Disease Cells

1989 • 69 citations

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

1989 • 61 citations

Molecular cloning of a cDNA for the E1 alpha subunit of rat liver branched chain alpha-ketoacid dehydrogenase.

1987 • 54 citations

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.

1991 • 48 citations

Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.

1990 • 46 citations

A T-to-A substitution in the E1α subunit gene of the branched-chain α-ketoacid dehydrogenase complex in two cell lines derived from menonite maple syrup urine disease patients

1990 • 46 citations

Isolation and sequencing of a cDNA encoding the decarboxylase (E1)alpha precursor of bovine branched-chain alpha-keto acid dehydrogenase complex. Expression of E1 alpha mRNA and subunit in maple-syrup-urine-disease and 3T3-L1 cells.

1988 • 46 citations

Epstein-Barr Virus Shuttle Vector for Stable Episomal Replication of cDNA Expression Libraries in Human Cells

1988 • 45 citations

Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.

1988 • 40 citations

Molecular cloning of the mature E1b‐β subunit of human branched‐chain α‐keto acid dehydrogenase complex

1990 • 20 citations

Structure of the gene encoding the entire mature E1α subunit of human branched‐chain α‐keto acid dehydrogenase complex

1991 • 15 citations

[18] Enzyme assays with mutant cell lines of maple syrup urine disease

1988 • 15 citations

Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1

1991 • 7 citations