2023
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Shen W, Flamm C, Delahanty AJ, Casteel E, Biven M, DeLeeuw MB, Poliquin S, Nwosu G, Randhave K, Kang JQ. 4-phenylbutyrate promoted wildtype GABA receptor trafficking, reduced Endoplasmic reticulum stress and mitigated seizures in Gabrg2 mice associated with Dravet syndrome. Epilepsia. 2023 Sep 25.
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Zhang Q, Forster-Gibson C, Bercovici E, Bernardo A, Ding F, Shen W, Langer K, Rex T, Kang JQ. Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human. Experimental neurology. 2023 Sep 11;369(369). 114537 p.
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Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nabavi Nouri M, Butler E, Drewes S, Van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain : a journal of neurology. 2023 Aug 30.
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Nwosu GI, Shen W, Zavalin K, Poliquin S, Randhave K, Flamm C, Biven M, Langer K, Kang JQ. GABA Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome. International journal of molecular sciences. 2023 May 8;24(24).
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Qu S, Jackson LG, Zhou C, Shen D, Shen W, Nwosu G, Howe R, Catron MA, Flamm C, Biven M, Kang JQ, Macdonald RL. Heterozygous GABA receptor β3 subunit N110D knock-in mice have epileptic spasms. Epilepsia. 2023 Apr;64(64). 1061-1073. NIHMSID: NIHMS1876305.
2022
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Mermer F, Poliquin S, Zhou S, Wang X, Ding Y, Yin F, Shen W, Wang J, Rigsby K, Xu D, Mack T, Nwosu G, Flamm C, Stein M, Kang JQ. Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans. Neurobiology of disease. 2022 Oct 1;172(172). 105810 p. NIHMSID: NIHMS1833449.
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Nwosu G, Reddy SB, Riordan HRM, Kang JQ. Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype. International journal of molecular sciences. 2022 Aug 26;23(23).
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Poliquin S, Kang JQ. Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy. Biomedicines. 2022 Mar 11;10(10).
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Nwosu G, Mermer F, Flamm C, Poliquin S, Shen W, Rigsby K, Kang JQ. 4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in patient variant-bearing cell and mouse models. Brain communications. 4(4). fcac144.
2021
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Mermer F, Poliquin S, Rigsby K, Rastogi A, Shen W, Romero-Morales A, Nwosu G, McGrath P, Demerast S, Aoto J, Bilousova G, Lal D, Gama V, Kang JQ. Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons. Brain : a journal of neurology. 2021 Sep 4;144(144). 2499-2512.
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Poliquin S, Hughes I, Shen W, Mermer F, Wang J, Mack T, Xu D, Kang JQ. Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD. Experimental neurology. 2021 Aug;342(342). 113723 p. NIHMSID: NIHMS1794170.
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Kang JQ. Epileptic Mechanisms Shared by Alzheimer's Disease: Viewed via the Unique Lens of Genetic Epilepsy. International journal of molecular sciences. 2021 Jul 1;22(22).
2020
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Shen W, Poliquin S, Macdonald RL, Dong M, Kang JQ. Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2 knockin: A link between genetic and acquired epilepsy? Epilepsia. 2020 Oct;61(61). 2301-2312. NIHMSID: NIHMS1671129.
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Wang J, Poliquin S, Mermer F, Eissman J, Delpire E, Wang J, Shen W, Cai K, Li BM, Li ZY, Xu D, Nwosu G, Flamm C, Liao WP, Shi YW, Kang JQ. Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism. Molecular brain. 2020 May 12;13(13). 76 p.
2019
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Shi YW, Zhang Q, Cai K, Poliquin S, Shen W, Winters N, Yi YH, Wang J, Hu N, Macdonald RL, Liao WP, Kang JQ. Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes. Brain : a journal of neurology. 2019 Oct 1;142(142). 3028-3044.
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Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW, Kang JQ. A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. Experimental neurology. 2019 Oct;320(320). 112973 p. NIHMSID: NIHMS1056923.
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Warner TA, Smith NK, Kang JQ. The therapeutic effect of stiripentol in Gabrg2 mice associated with epileptic encephalopathy. Epilepsy research. 2019 Aug;154(154). 8-12. NIHMSID: NIHMS1527595.
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Zhang CQ, McMahon B, Dong H, Warner T, Shen W, Gallagher M, Macdonald RL, Kang JQ. Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies. Epilepsia. 2019 Jun;60(60). 1137-1149. NIHMSID: NIHMS1056920.
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Myers SJ, Yuan H, Kang JQ, Tan FCK, Traynelis SF, Low CM. Distinct roles of and variants in neurological conditions. F1000Research. 8(8).
2018
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Mi DJ, Dixit S, Warner TA, Kennard JA, Scharf DA, Kessler ES, Moore LM, Consoli DC, Bown CW, Eugene AJ, Kang JQ, Harrison FE. Altered glutamate clearance in ascorbate deficient mice increases seizure susceptibility and contributes to cognitive impairment in APP/PSEN1 mice. Neurobiology of aging. 2018 Nov;71(71). 241-254. NIHMSID: NIHMS1505661.
2017
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Kang JQ. Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies. Epilepsy research. 2017 Nov;137(137). 9-18. NIHMSID: NIHMS984229.
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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 Dravet syndrome mice. Epilepsia. 2017 Aug;58(58). 1451-1461. NIHMSID: NIHMS875700.
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Warner TA, Liu Z, Macdonald RL, Kang JQ. Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2 mice. Epilepsy research. 2017 Aug;134(134). 1-8. NIHMSID: NIHMS876902.
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Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S. A missense mutation of causes early myoclonic encephalopathy. Journal of medical genetics. 2017 Mar;54(54). 202-211.
2016
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Delahanty RJ, Zhang Y, Bichell TJ, Shen W, Verdier K, Macdonald RL, Xu L, Boyd K, Williams J, Kang JQ. Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation. Cell reports. 2016 Dec 20;17(17). 3115-3124. NIHMSID: NIHMS836970.
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Wang J, Shen D, Xia G, Shen W, Macdonald RL, Xu D, Kang JQ. Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity. Scientific reports. 2016 Oct 20;6(6). 35294 p.
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Kang JQ, Macdonald RL. Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome. JAMA neurology. 2016 Aug 1;73(73). 1009-16. NIHMSID: NIHMS854906.
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Warner TA, Shen W, Huang X, Liu Z, Macdonald RL, Kang JQ. Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy. Human molecular genetics. 2016 Aug 1;25(25). 3192-3207.
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Xia G, P Pourali S, Warner TA, Zhang CQ, L Macdonald R, Kang JQ. Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2(+/Q390X) mice associated with epileptic encephalopathy. Epilepsy research. 2016 Jul;123(123). 50-4. NIHMSID: NIHMS858193.
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Wang J, Luttrell J, Zhang N, Khan S, Shi N, Wang MX, Kang JQ, Wang Z, Xu D. Exploring Human Diseases and Biological Mechanisms by Protein Structure Prediction and Modeling. Advances in experimental medicine and biology. 939(939). 39-61. NIHMSID: NIHMS1056917.
2015
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Kang JQ, Shen W, Zhou C, Xu D, Macdonald RL. The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration. Nature neuroscience. 2015 Jul;18(18). 988-96. NIHMSID: NIHMS684786.
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Zhou Y, Wang GF, Yang L, Liu F, Kang JQ, Wang RL, Gu W, Wang CY. Treatment with 1,25(OH)2D3 induced HDAC2 expression and reduced NF-κB p65 expression in a rat model of OVA-induced asthma. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas. 2015 Jul;48(48). 654-64.
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Warner TA, Kang JQ, Kennard JA, Harrison FE. Low brain ascorbic acid increases susceptibility to seizures in mouse models of decreased brain ascorbic acid transport and Alzheimer's disease. Epilepsy research. 2015 Feb;110(110). 20-5. NIHMSID: NIHMS645521.
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Wang F, Kang JQ, Chen SY, Wang GF. Acute pulmonary embolism with electrocardiagraphic changes mimicking acute coronary syndrome: a case report and literature review. International journal of clinical and experimental medicine. 8(8). 11038-42.
2014
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Xue L, Yang L, Jin ZA, Gao F, Kang JQ, Xu GH, Liu B, Li H, Wang XJ, Liu LJ, Wang BL, Liang SH, Ding J. Increased expression of HSP27 inhibits invasion and metastasis in human esophageal squamous cell carcinoma. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine. 2014 Jul;35(35). 6999-7007.
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Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI. A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of disease. 2014 Apr;64(64). 131-141. NIHMSID: NIHMS595285.
2013
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Kang JQ, Shen W, Macdonald RL. Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype. Annals of neurology. 2013 Oct;74(74). 547-59. NIHMSID: NIHMS485194.
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Shah CR, Forsberg CG, Kang JQ, Veenstra-VanderWeele J. Letting a typical mouse judge whether mouse social interactions are atypical. Autism research : official journal of the International Society for Autism Research. 2013 Jun;6(6). 212-20. NIHMSID: NIHMS441374.
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Xu GH, Feng F, Zhao GH, Kang JQ, Yang XW, Chen K, Guo Y, Zhang HW. [Effects of esophageal cancer on the nerve fiber growth and guidance]. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery. 2013 May;16(16). 474-8.
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Kang JQ, Barnes G. A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors. Journal of autism and developmental disorders. 2013 Jan;43(43). 68-79.
2012
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Macdonald RL, Kang JQ. mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies. Epilepsia. 2012 Dec;53 Suppl 9(53 Suppl 9). 59-70. NIHMSID: NIHMS505514.
2011
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Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH, Macdonald RL, Sutcliffe JS. Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. Molecular psychiatry. 2011 Jan;16(16). 86-96. NIHMSID: NIHMS147693.
2010
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Kang JQ, Shen W, Lee M, Gallagher MJ, Macdonald RL. Slow degradation and aggregation in vitro of mutant GABAA receptor gamma2(Q351X) subunits associated with epilepsy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2010 Oct 13;30(30). 13895-905. NIHMSID: NIHMS244763.
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Macdonald RL, Kang JQ, Gallagher MJ. Mutations in GABAA receptor subunits associated with genetic epilepsies. The Journal of physiology. 2010 Jun 1;588(588). 1861-9.
2009
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Kang JQ, Macdonald RL. Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies. Trends in molecular medicine. 2009 Sep;15(15). 430-8. NIHMSID: NIHMS266494.
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Kang JQ, Shen W, Macdonald RL. Two molecular pathways (NMD and ERAD) contribute to a genetic epilepsy associated with the GABA(A) receptor GABRA1 PTC mutation, 975delC, S326fs328X. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2009 Mar 4;29(29). 2833-44. NIHMSID: NIHMS103738.
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Kang JQ, Shen W, Macdonald RL. The GABRG2 mutation, Q351X, associated with generalized epilepsy with febrile seizures plus, has both loss of function and dominant-negative suppression. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2009 Mar 4;29(29). 2845-56. NIHMSID: NIHMS103746.
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Macdonald RL, Kang JQ. Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations. Epilepsy currents. 9(9). 18-23.
2006
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Kang JQ, Shen W, Macdonald RL. Why does fever trigger febrile seizures? GABAA receptor gamma2 subunit mutations associated with idiopathic generalized epilepsies have temperature-dependent trafficking deficiencies. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2006 Mar 1;26(26). 2590-7.
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Feng HJ, Kang JQ, Song L, Dibbens L, Mulley J, Macdonald RL. Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2006 Feb 1;26(26). 1499-506.
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Macdonald RL, Kang JQ, Gallagher MJ, Feng HJ. GABA(A) receptor mutations associated with generalized epilepsies. Advances in pharmacology (San Diego, Calif.). 54(54). 147-69.
2004
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Kang JQ, Macdonald RL. The GABAA receptor gamma2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of alpha1beta2gamma2S receptors in the endoplasmic reticulum. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2004 Oct 6;24(24). 8672-7.
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Tian ZM, Wan MX, Wang SP, Kang JQ. Effects of ultrasound and additives on the function and structure of trypsin. Ultrasonics sonochemistry. 2004 Sep;11(11). 399-404.
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Chong ZZ, Kang JQ, Maiese K. AKT1 drives endothelial cell membrane asymmetry and microglial activation through Bcl-xL and caspase 1, 3, and 9. Experimental cell research. 2004 Jun 10;296(296). 196-207.
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Chong ZZ, Kang JQ, Maiese K. Essential cellular regulatory elements of oxidative stress in early and late phases of apoptosis in the central nervous system. Antioxidants & redox signaling. 2004 Apr;6(6). 277-87.
2003
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Chong ZZ, Lin SH, Kang JQ, Maiese K. The tyrosine phosphatase SHP2 modulates MAP kinase p38 and caspase 1 and 3 to foster neuronal survival. Cellular and molecular neurobiology. 2003 Oct;23(23). 561-78.
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Kang JQ, Chong ZZ, Maiese K. Akt1 protects against inflammatory microglial activation through maintenance of membrane asymmetry and modulation of cysteine protease activity. Journal of neuroscience research. 2003 Oct 1;74(74). 37-51.
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Kang JQ, Chong ZZ, Maiese K. Critical role for Akt1 in the modulation of apoptotic phosphatidylserine exposure and microglial activation. Molecular pharmacology. 2003 Sep;64(64). 557-69.
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Chong ZZ, Kang JQ, Maiese K. Erythropoietin: cytoprotection in vascular and neuronal cells. Current drug targets. Cardiovascular & haematological disorders. 2003 Jun;3(3). 141-54.
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Chong ZZ, Kang JQ, Maiese K. Erythropoietin fosters both intrinsic and extrinsic neuronal protection through modulation of microglia, Akt1, Bad, and caspase-mediated pathways. British journal of pharmacology. 2003 Mar;138(138). 1107-18.
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Chong ZZ, Kang JQ, Maiese K. Apaf-1, Bcl-xL, cytochrome c, and caspase-9 form the critical elements for cerebral vascular protection by erythropoietin. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2003 Mar;23(23). 320-30.
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Chong ZZ, Lin SH, Kang JQ, Maiese K. Erythropoietin prevents early and late neuronal demise through modulation of Akt1 and induction of caspase 1, 3, and 8. Journal of neuroscience research. 2003 Mar 1;71(71). 659-69.
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Chong ZZ, Kang JQ, Maiese K. Metabotropic glutamate receptors promote neuronal and vascular plasticity through novel intracellular pathways. Histology and histopathology. 2003 Jan;18(18). 173-89.
2002
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Chong ZZ, Kang JQ, Maiese K. Erythropoietin is a novel vascular protectant through activation of Akt1 and mitochondrial modulation of cysteine proteases. Circulation. 2002 Dec 3;106(106). 2973-9.
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Chong ZZ, Kang JQ, Maiese K. Angiogenesis and plasticity: role of erythropoietin in vascular systems. Journal of hematotherapy & stem cell research. 2002 Dec;11(11). 863-71.
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Chong ZZ, Kang JQ, Maiese K. Hematopoietic factor erythropoietin fosters neuroprotection through novel signal transduction cascades. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism. 2002 May;22(22). 503-14.