Article
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Molecular brain - 24 May 2020
Ueda Masashi, Matsuki Tohru, Fukada Masahide, Eda Shima, Toya Akie, Iio Akio, Tabata Hidenori, Nakayama Atsuo
Abstract excerpt
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a rare congenital anomaly syndrome characterized by intellectual disability, brain malformation, facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations is caused by de novo heterozygous mutations of the SON gene. The nuclear protein SON is involved in gene transcription and RNA splicing; however, the roles of SON in neural development remain...
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