Is spastic ataxia 8 a protein misfolding disorder?

Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166882. doi: 10.1016/j.bbadis.2023.166882. Epub 2023 Sep 9.
No abstract available

Keywords: NKX6-2; Nonsense mutations; Spastic ataxia 8; Truncated proteins.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Intellectual Disability*
  • Muscle Spasticity / genetics
  • Optic Atrophy*
  • Spinocerebellar Ataxias* / genetics

Supplementary concepts

  • Spastic Ataxia