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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47).
Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D. Teinert J, et al. Among authors: buttermore ed. Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11. Stem Cell Res. 2019. PMID: 31525725 Free PMC article.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking.
Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Behne R, et al. Among authors: buttermore ed. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. Hum Mol Genet. 2020. PMID: 31915823 Free PMC article.
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).
Chen PF, Chen T, Forman TE, Swanson AC, O'Kelly B, Dwyer SA, Buttermore ED, Kleiman R, Js Carrington S, Lavery DJ, Swanson LC, Olson HE, Sahin M. Chen PF, et al. Among authors: buttermore ed. Stem Cell Res. 2021 May;53:102276. doi: 10.1016/j.scr.2021.102276. Epub 2021 Mar 5. Stem Cell Res. 2021. PMID: 33714067 Free PMC article.
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Buttermore ED, Anderson NC, Chen PF, Makhortova NR, Kim KH, Wafa SMA, Dwyer S, Micozzi JM, Winden KD, Zhang B, Han MJ, Kleiman RJ, Brownstein CA, Sahin M, Gonzalez-Heydrich J. Buttermore ED, et al. Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022. Front Psychiatry. 2022. PMID: 36405918 Free PMC article.
High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia.
Saffari A, Brechmann B, Boeger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu J, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore E, Barrett L, Borner G, Davies A, Sahin M, Ebrahimi-Fakhari D. Saffari A, et al. Res Sq [Preprint]. 2023 Jun 12:rs.3.rs-3036166. doi: 10.21203/rs.3.rs-3036166/v1. Res Sq. 2023. PMID: 37398196 Free PMC article. Updated. Preprint.
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations.
Afshar-Saber W, Teaney NA, Winden KD, Jumo H, Shi X, McGinty G, Hubbs J, Chen C, Tokatly Latzer I, Gasparoli F, Ebrahimi-Fakhari D, Buttermore ED, Roullet JB, Pearl PL, Sahin M. Afshar-Saber W, et al. Among authors: buttermore ed. Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. Neurobiol Dis. 2024. PMID: 38110041 Free PMC article.
21 results