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.

Lignende værker

• 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.
  af: Fisher, C R, et al.
  Udgivet: (1991)
• Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
  af: Chuang, J. L., et al.
  Udgivet: (1994)
• Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
  af: Chuang, D T, et al.
  Udgivet: (1982)
• Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
  af: Koyata, H, et al.
  Udgivet: (1993)
• Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
  af: Dancis, J, et al.
  Udgivet: (1977)