Abstract: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 undetermined. We investigated the effects of Son knockdown on neural development in mice and found t… Show more
“…The induction of human wild‐type SON expression rescued these neural abnormalities, confirming that the abnormalities were caused by SON insufficiency. In addition, this data supports the idea that the neural abnormalities in ZTTK syndrome are caused by SON haploinsufficiency rather than functional or dysfunctional proteins resulting from different types of mutations (Ueda et al, 2020).…”
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
“…The induction of human wild‐type SON expression rescued these neural abnormalities, confirming that the abnormalities were caused by SON insufficiency. In addition, this data supports the idea that the neural abnormalities in ZTTK syndrome are caused by SON haploinsufficiency rather than functional or dysfunctional proteins resulting from different types of mutations (Ueda et al, 2020).…”
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
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