Nwosu G - Search Results

1

A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.

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. Cai K, et al. Among authors: nwosu g. Exp Neurol. 2019 Oct;320:112973. doi: 10.1016/j.expneurol.2019.112973. Epub 2019 Jun 6. Exp Neurol. 2019. PMID: 31176687 Free PMC article.

2

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: nwosu g. Mol Brain. 2020 May 12;13(1):76. doi: 10.1186/s13041-020-00612-6. Mol Brain. 2020. PMID: 32398021 Free PMC article.

3

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: nwosu g. Brain. 2021 Sep 4;144(8):2499-2512. doi: 10.1093/brain/awab207. Brain. 2021. PMID: 34028503 Free PMC article.

4

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: nwosu g. 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.

5

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. Brain Commun. 2022 Jun 6;4(3):fcac144. doi: 10.1093/braincomms/fcac144. eCollection 2022. Brain Commun. 2022. PMID: 35911425 Free PMC article.

6

Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.

Nwosu G, Reddy SB, Riordan HRM, Kang JQ. Nwosu G, et al. Int J Mol Sci. 2022 Aug 26;23(17):9683. doi: 10.3390/ijms23179683. Int J Mol Sci. 2022. PMID: 36077081 Free PMC article. Review.

7

Heterozygous GABA_A receptor β3 subunit N110D knock-in mice have epileptic spasms.

Qu S, Jackson LG, Zhou C, Shen D, Shen W, Nwosu G, Howe R, Catron MA, Flamm C, Biven M, Kang JQ, Macdonald RL. Qu S, et al. Among authors: nwosu g. Epilepsia. 2023 Apr;64(4):1061-1073. doi: 10.1111/epi.17470. Epub 2023 Feb 14. Epilepsia. 2023. PMID: 36495145 Free PMC article.

8

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. Int J Mol Sci. 2023 May 8;24(9):8458. doi: 10.3390/ijms24098458. Int J Mol Sci. 2023. PMID: 37176165 Free PMC article.

9

4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2^+/Q390X mice associated with Dravet syndrome.

Shen W, Flamm C, Delahanty AJ, Casteel E, Biven M, DeLeeuw MB, Poliquin S, Nwosu G, Randhave K, Kang JQ. Shen W, et al. Among authors: nwosu g. Epilepsia. 2024 Jan;65(1):204-217. doi: 10.1111/epi.17779. Epub 2023 Nov 29. Epilepsia. 2024. PMID: 37746768 Free PMC article.

10

Targeting the integrated stress response in hematologic malignancies.

Nwosu GO, Powell JA, Pitson SM. Nwosu GO, et al. Exp Hematol Oncol. 2022 Nov 8;11(1):94. doi: 10.1186/s40164-022-00348-0. Exp Hematol Oncol. 2022. PMID: 36348393 Free PMC article. Review.

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