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

This publication has 28 references indexed in Scilit:

• A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase
  Published by Elsevier ,2004
• Molecular cloning of the mature E1b-β subunit of human branched-chain α-keto acid dehydrogenase complex
  FEBS Letters, 1990
• Isolation and characterization of a complementary DNA clone coding for the E1.beta. subunit of the bovine branched-chain .alpha.-ketoacid dehydrogenase complex: complete amino acid sequence of the precursor protein and its proteolytic processing
  Biochemistry, 1990
• Complete primary structure of the transacylase (E2b) subunit of the human branched chain α-keto acid dehydrogenase complex
  Biochemical and Biophysical Research Communications, 1989
• Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain .alpha.-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs
  Biochemistry, 1988
• Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
  Journal of Clinical Investigation, 1987
• Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
  Journal of Clinical Investigation, 1985
• Dephosphorylation and reactivation of phosphorylated purified ox‐kidney branched‐chain dehydrogenase complex by co‐purified phosphatase
  FEBS Letters, 1983
• Prospective Study of Maple-Syrup-Urine Disease for the First Four Days of Life
  New England Journal of Medicine, 1982
• Regulation of the branched chain 2‐oxoacid dehydrogenase kinase reaction
  FEBS Letters, 1982