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Xuan Huang - Publications

Affiliations: 
Vanderbilt University Vanderbilt University, Nashville, TN 
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5 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Qu S, Zhou C, Howe R, Shen W, Huang X, Catron M, Hu N, Macdonald RL. The K328M substitution in the human GABA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice. Neurobiology of Disease. 105296. PMID 33582225 DOI: 10.1016/j.nbd.2021.105296  0.645
2017 Huang X, Zhou C, Tian M, Kang JQ, Shen W, Verdier K, Pimenta A, MacDonald RL. Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2(+/Q390X) Dravet syndrome mice. Epilepsia. PMID 28586508 DOI: 10.1111/Epi.13810  0.587
2016 Warner TA, Shen W, Huang X, Liu Z, Macdonald RL, Kang JQ. DIfferential molecular and behavioral alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. Human Molecular Genetics. PMID 27340224 DOI: 10.1093/Hmg/Ddw168  0.596
2014 Huang X, Hernandez CC, Hu N, Macdonald RL. Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents. Neurobiology of Disease. 68: 167-79. PMID 24798517 DOI: 10.1016/J.Nbd.2014.04.015  0.578
2012 Huang X, Tian M, Hernandez CC, Hu N, Macdonald RL. 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. Neurobiology of Disease. 48: 115-23. PMID 22750526 DOI: 10.1016/J.Nbd.2012.06.013  0.654
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