Poliquin S - Search Results

1

γ-Aminobutyric acid transporter and GABA_A receptor mechanisms in Slc6a1^+/A288V and Slc6a1^+/S295L mice associated with developmental and epileptic encephalopathies.

Shen W, Nwosu G, Honer M, Clasadonte J, Schmalzbauer S, Biven M, Langer K, Flamm C, Poliquin S, Mermer F, Dedeurwaerdere S, Hernandez MC, Kang JQ. Shen W, et al. Among authors: poliquin s. Brain Commun. 2024 Apr 22;6(2):fcae110. doi: 10.1093/braincomms/fcae110. eCollection 2024. Brain Commun. 2024. PMID: 38650830 Free PMC article.

2

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.

Shi YW, Zhang Q, Cai K, Poliquin S, Shen W, Winters N, Yi YH, Wang J, Hu N, Macdonald RL, Liao WP, Kang JQ. Shi YW, et al. Among authors: poliquin s. Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250. Brain. 2019. PMID: 31435640 Free PMC article.

3

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.

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. Wang J, et al. Among authors: poliquin s. Mol Brain. 2020 May 12;13(1):76. doi: 10.1186/s13041-020-00612-6. Mol Brain. 2020. PMID: 32398021 Free PMC article.

4

Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse model Gabrg2^+/Q390X knockin: A link between genetic and acquired epilepsy?

Shen W, Poliquin S, Macdonald RL, Dong M, Kang JQ. Shen W, et al. Among authors: poliquin s. Epilepsia. 2020 Oct;61(10):2301-2312. doi: 10.1111/epi.16670. Epub 2020 Sep 17. Epilepsia. 2020. PMID: 32944937 Free PMC article.

5

Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD.

Poliquin S, Hughes I, Shen W, Mermer F, Wang J, Mack T, Xu D, Kang JQ. Poliquin S, et al. Exp Neurol. 2021 Aug;342:113723. doi: 10.1016/j.expneurol.2021.113723. Epub 2021 May 5. Exp Neurol. 2021. PMID: 33961861 Free PMC article.

6

Common molecular mechanisms of SLC6A1 variant-mediated neurodevelopmental disorders in astrocytes and neurons.

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. Mermer F, et al. Among authors: poliquin s. Brain. 2021 Sep 4;144(8):2499-2512. doi: 10.1093/brain/awab207. Brain. 2021. PMID: 34028503 Free PMC article.

7

Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy.

Poliquin S, Kang JQ. Poliquin S, et al. Biomedicines. 2022 Mar 11;10(3):647. doi: 10.3390/biomedicines10030647. Biomedicines. 2022. PMID: 35327449 Free PMC article. Review.

8

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans.

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. Mermer F, et al. Among authors: poliquin s. Neurobiol Dis. 2022 Oct 1;172:105810. doi: 10.1016/j.nbd.2022.105810. Epub 2022 Jul 14. Neurobiol Dis. 2022. PMID: 35840120 Free PMC article.

9

4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in SLC6A1 patient variant-bearing cell and mouse models.

Nwosu G, Mermer F, Flamm C, Poliquin S, Shen W, Rigsby K, Kang JQ. Nwosu G, et al. Among authors: poliquin s. Brain Commun. 2022 Jun 6;4(3):fcac144. doi: 10.1093/braincomms/fcac144. eCollection 2022. Brain Commun. 2022. PMID: 35911425 Free PMC article.

10

GABA_A Receptor β3 Subunit Mutation N328D Heterozygous Knock-in Mice Have Lennox-Gastaut Syndrome.

Nwosu GI, Shen W, Zavalin K, Poliquin S, Randhave K, Flamm C, Biven M, Langer K, Kang JQ. Nwosu GI, et al. Among authors: poliquin s. Int J Mol Sci. 2023 May 8;24(9):8458. doi: 10.3390/ijms24098458. Int J Mol Sci. 2023. PMID: 37176165 Free PMC article.

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