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Huansen Huang

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Articles

ATP9A deficiency causes ADHD and aberrant endosomal recycling via modulating RAB5 and RAB11 activity - Molecular Psychiatry

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By Tian Meng, Xiaoting Chen, Zhengjie He, Yunlong Zhang, Ahmed Waqas, Qian Liu, Chuan Zhang, Xiang-Dong Sun, Muhammad Umair, Haofeng Huang, Shiyin Lin, Kunru Liu, Guo Bai, Mindong Xu, Haixia Zhuang, Huansen Huang, Yousheng Yan
| Nature Verified
Abstract ATP9A, a lipid flippase of the class II P4-ATPases, is involved in cellular vesicle trafficking. Its homozygous variants are linked to neurodevelopmental disorders in humans. However, its physiological function, the underlying mechanism as well as its pathophysiological relevance in humans and animals are still largely unknown. Here, we report two independent families in which the nonsense mutations c.433C>T/c.658C>T/c.983G>A (p. Arg145*/p. Arg220*/p.
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