Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

Eitemau Tebyg

• Inherited Methylmalonyl CoA Mutase Apoenzyme Deficiency in Human Fibroblasts: EVIDENCE FOR ALLELIC HETEROGENEITY, GENETIC COMPOUNDS, AND CODOMINANT EXPRESSION
  gan: Willard, Huntington F., et al.
  Cyhoeddwyd: (1980)
• Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.
  gan: Ledley, F D, et al.
  Cyhoeddwyd: (1990)
• Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
  gan: Chandler, Randy J, et al.
  Cyhoeddwyd: (2007)
• Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
  gan: Luciani, Alessandro, et al.
  Cyhoeddwyd: (2020)
• Author Correction: Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
  gan: Luciani, Alessandro, et al.
  Cyhoeddwyd: (2020)