Engagement of Circular RNA HECW2 in the Nonautophagic Role of ATG5 Implicated in the Endothelial-Mesenchymal Transition (vol 14, pg 404, 2020)
AUTOPHAGY
Authors: Yang, Li; Han, Bing; Zhang, Yuan; Bai, Ying; Chao, Jie; Hu, Gang; Yao, Honghong
Abstract
Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Authors: Lu, Qian; Zhang, Meng-Na; Shi, Xiu-Yu; Zhang, Ling-Qiang; Wang, Yang-Yang; Liu, Li-Ying; He, Wen; Chen, Hui-Min; He, Bing; Zou, Li-Ping
Abstract
Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) (MIM# 617245) identified by screening 240 patients with DEE and summarized clinical features of published DEE patients with HECW2 variants. Functionally, transcriptional knockdown of zebrafish hecw2a led to early morphological abnormalities in the brain tissues. These results suggest a potential functional link between HECW2 dysfunction and brain development.
COA
Publication 
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