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Xuan Huang
Xuan Huang
Vanderbilt University Medical Center
Biology
Protein subunit
GABRG2
GABAA receptor
Molecular biology
4
Papers
95
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Overexpressing wild‐type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice
2017
Epilepsia
Xuan Huang
Chengwen Zhou
Mengnan Tian
Jing-Qiong Kang
Wangzhen Shen
Kelienne M. Verdier
Aurea Pimenta
Robert L. Macdonald
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Citations (15)
Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy
2016
Human Molecular Genetics
Timothy A. Warner
Wangzhen Shen
Xuan Huang
Zhong Liu
Robert L. Macdonald
Jing-Qiong Kang
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Citations (27)
Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
2014
Neurobiology of Disease
Xuan Huang
Ciria C. Hernandez
Ningning Hu
Robert L. Macdonald
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Citations (24)
The GABRG2 Nonsense Mutation, Q40X, Associated with Dravet Syndrome Activated NMD and Generated a Truncated Subunit That was Partially Rescued by aminoglycoside-Induced Stop Codon Read-through
2012
Neurobiology of Disease
Xuan Huang
Mengnan Tian
Ciria C. Hernandez
Ningning Hu
Robert L. Macdonald
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Citations (29)
1