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

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.