Autosomal dominant optic atrophy: a novel treatment for opa1 splice defects using u1 snrna adaption

HIGHLIGHTS

• who: Christoph Ju00fcschke from the University of Oldenburg, Oldenburg, Germany have published the paper: Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption, in the Journal: (JOURNAL) of 26/Dec/2021
• what: The authors report the identification of a family with ADOA from Germany harboring a novel splice donor site mutation in the OPA1 gene. The authors aimed to convert misspliced OPA1 transcripts into correctly spliced OPA1 transcripts, i.e., increase the fraction of functional OPA1 transcripts without interfering with the processing of isoforms. The authors focused on regions . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or E-mail:

  If you don't have an account, you can create one here.