UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

@inproceedings{Duan2016UBA5MC,
  title={UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia},
  author={Ranhui Duan and Yuting Shi and Li Yu and Gehan Zhang and Jia Li and Yunting Lin and Jifeng Guo and Junling Wang and L i Sh{\'e}n and Hong Jiang and Guanghui Wang and Beisha Tang and Xiao-Jiang Li},
  booktitle={PloS one},
  year={2016}
}
Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. For many affected patients, the genetic cause remains undetermined. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activating enzyme 5 gene (UBA5) in two Chinese siblings presenting with ARCA. Moreover, copy number variations in UBA5 or ubiquitin-fold modifier 1 gene (UFM1) were documented with the phenotypes of global… CONTINUE READING
Recent Discussions
This paper has been referenced on Twitter 4 times over the past 90 days. VIEW TWEETS