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, cilt.1750, 2021 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 1750
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.brainres.2020.147167
  • Dergi Adı: BRAIN RESEARCH

Özet

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.