Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate

Non-canonical C-terminal variant of MeCP2 R344W exhibits enhanced degradation rate

Rett Syndrome (RTT) is a neurodevelopmental disorder caused by pathogenic variants in the MECP2 gene. While the majority of RTT-causing variants are clustered in the methyl-CpG binding domain and NCoR/SMRT interaction domain, we report a female patient with a functionally uncharacterized MECP2 varia...

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Bibliographic Details
Main Authors: Yue Chai, Sharon Shui Ying Lee, Amelle Shillington, Xiaoli Du, Catalina Ka Man Fok, Kam Chun Yeung, Gavin Ka Yu Siu, Shiyang Yuan, Zhongyu Zheng, Hayley Wing Sum Tsang, Shen Gu, Yu Chen, Tao Ye, Jacque Pak Kan Ip
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:IBRO Neuroscience Reports
Subjects:
Rett Syndrome
Methyl-CpG binding domain 2 (MECP2)
Carboxyl-terminal domain (C-terminal domain)
Missense variant
R344W
Protein stability
Online Access:http://www.sciencedirect.com/science/article/pii/S2667242123022649

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