A Schizophrenia-Linked KALRN Coding Variant Alters Neuron Morphology, Protein Function, and Transcript Stability
نویسندگان
چکیده
منابع مشابه
A sequence variant in human KALRN impairs protein function and coincides with reduced cortical thickness
Dendritic spine pathology is a key feature of several neuropsychiatric disorders. The Rac1 guanine nucleotide exchange factor kalirin-7 is critical for spine morphogenesis on cortical pyramidal neurons. Here we identify a rare coding variant in the KALRN gene region that encodes the catalytic domain, in a schizophrenia patient and his sibling with major depressive disorder. The D1338N substitut...
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ژورنال
عنوان ژورنال: Biological Psychiatry
سال: 2018
ISSN: 0006-3223
DOI: 10.1016/j.biopsych.2017.10.024