Efficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.

Eitemau Tebyg

• Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency
  gan: Li, Sitao, et al.
  Cyhoeddwyd: (2018)
• Long-term correction of ornithine transcarbamylase deficiency in Spf-Ash mice with a translationally optimized AAV vector
  gan: De Sabbata, Giulia, et al.
  Cyhoeddwyd: (2020)
• An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency
  gan: Balestra, Dario, et al.
  Cyhoeddwyd: (2020)
• Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man
  gan: Rivera-Barahona, Ana, et al.
  Cyhoeddwyd: (2015)
• Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations
  gan: Huy-Hoang Nguyen, et al.
  Cyhoeddwyd: (2020-07-01)