Jing Qiong Kang
Affiliation: Vanderbilt University
Warner T, Kang J, Kennard J, Harrison F. Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease. Epilepsy Res. 2015;110:20-5 pubmed publisher
..These data suggest that avoiding ascorbic acid deficiency may be particularly important in populations at increased risk for epilepsy and seizures, such as Alzheimer's disease. ..
Warner T, Shen W, Huang X, Liu Z, Macdonald R, Kang J. Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. Hum Mol Genet. 2016;25:3192-3207 pubmed publisher
..This work provides insights into the pathophysiology of epilepsy syndrome heterogeneity and designing mechanism-based therapies. ..
Delahanty R, Zhang Y, Bichell T, Shen W, Verdier K, Macdonald R, et al
. Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Cell Rep. 2016;17:3115-3124 pubmed publisher
..These results suggest that impairment in GABRB3 downregulates OCA2 and indirectly causes ocular hypopigmentation and visual defects in AS and PWS. ..
Warner T, Liu Z, Macdonald R, Kang J. Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice. Epilepsy Res. 2017;134:1-8 pubmed publisher
Kang J. Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies. Epilepsy Res. 2017;137:9-18 pubmed publisher
..Nevertheless, these findings suggest impaired GABAergic signaling is a converging pathway of defects for many ion channel or non ion channel mutations associated with genetic epilepsies. ..
Kang J, Shen W, Macdonald R. Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. J Neurosci. 2009;29:2833-44 pubmed publisher
..The molecular mechanisms outlined here delineate a model for the pathogenesis of many PTC-generating mutations. ..
Kang J, Shen W, Macdonald R. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. J Neurosci. 2009;29:2845-56 pubmed publisher
..Thus, we hypothesize that a likely explanation for the GEFS+ phenotype is a dominant-negative suppression of wild-type receptors by the mutant gamma2S subunit in combination with loss of mutant gamma2S subunit protein function. ..
Kang J, Macdonald R. Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies. Trends Mol Med. 2009;15:430-8 pubmed publisher
Kang J, Shen W, Lee M, Gallagher M, Macdonald R. Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy. J Neurosci. 2010;30:13895-905 pubmed publisher