Novel mutations in ATP13A2 associated with mixed neurological presentations and iron toxicity due to nonsense-mediated decay


Kirimtay K., Temizci B., GÜLTEKİN M., Yapici Z., Karabay Korkmaz A.

BRAIN RESEARCH, vol.1750, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 1750
  • Publication Date: 2021
  • Doi Number: 10.1016/j.brainres.2020.147167
  • Journal Name: BRAIN RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, Animal Behavior Abstracts, Aquatic Science & Fisheries Abstracts (ASFA), BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo, Veterinary Science Database
  • Keywords: Kufor-Rakeb, ATP13A2, Nonsense-mediated decay, Iron, NBIA
  • Istanbul Technical University Affiliated: Yes

Abstract

Background: Kufor-Rakeb Syndrome (KRS) is an autosomal recessive disease characterized by Parkinsonism, pyramidal signs, dementia, and supranuclear gaze palsy. KRS is caused by mutations in ATP13A2 producing a transmembrane protein responsible for the regulation of intracellular inorganic cations.