Article
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
Nature communications - 26 Feb 2020
Matsumura Kensuke, Seiriki Kaoru, Okada Shota, Nagase Masashi, Ayabe Shinya, Yamada Ikuko, Furuse Tamio, Shibuya Hirotoshi, Yasuda Yuka, Yamamori Hidenaga, Fujimoto Michiko, Nagayasu Kazuki, Yamamoto Kana, Kitagawa Kohei, Miura Hiroki, Gotoda-Nishimura Nanaka, Igarashi Hisato, Hayashida Misuzu, Baba Masayuki, Kondo Momoka, Hasebe Shigeru, Ueshima Kosei, Kasai Atsushi, Ago Yukio, Hayata-Takano Atsuko, Shintani Norihito, Iguchi Tokuichi, Sato Makoto, Yamaguchi Shun, Tamura Masaru, Wakana Shigeharu, Yoshiki Atsushi, Watabe Ayako M, Okano Hideyuki, Takuma Kazuhiro, Hashimoto Ryota, Hashimoto Hitoshi, Nakazawa Takanobu
Abstract excerpt
Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiological basis behind these disorders remains unknown. Here, we show that POGZ regulates neuronal development and that...
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