HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

Abstract Background HCFC1 encodes transcriptional co‐regulator HCF‐1, which undergoes an unusual proteolytic maturation at a centrally located proteolysis domain. HCFC1 variants were associated with X‐linked cobalamin metabolism disorders and mental retardation‐3. This study aimed to explore the rol...

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Main Authors: Na He, Bao‐Zhu Guan, Jie Wang, Han‐Kui Liu, Yong Mao, Zhi‐Gang Liu, Fei Yin, Jing Peng, Bo Xiao, Bei‐sha Tang, Dong Zhou, Guang Huang, Qi‐Lin Dai, Ying Zeng, Hong Han, Qiong‐Xiang Zhai, Bin Li, Bin Tang, Wen‐Bin Li, Wang Song, Liu Liu, Yi‐Wu Shi, Bing‐Mei Li, Tao Su, Peng Zhou, Xiao‐Rong Liu, Li‐Wu Guo, Yong‐Hong Yi, Wei‐Ping Liao
Format: Article
Language:English
Published: Wiley 2023-06-01
Series:Clinical and Translational Medicine
Subjects:
cobalamin metabolism disorders
HCFC1 variant
molecular sub‐regional effect
partial epilepsy
proteolysis dysfunction
Online Access:https://doi.org/10.1002/ctm2.1289

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