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Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties.
Benedetti MC, D'andrea T, Colantoni A, Silachev D, de Turris V, Boussadia Z, Babenko VA, Volovikov EA, Belikova L, Bogomazova AN, Pepponi R, Whye D, Buttermore ED, Tartaglia GG, Lagarkova MA, Katanaev VL, Musayev I, Martinelli S, Fucile S, Rosa A. Benedetti MC, et al. Among authors: buttermore ed. Heliyon. 2024 Feb 21;10(5):e26656. doi: 10.1016/j.heliyon.2024.e26656. eCollection 2024 Mar 15. Heliyon. 2024. PMID: 38434323 Free PMC article.
High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.
Saffari A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, Winden K, Hubbs J, Buttermore ED, Barrett L, Borner GHH, Davies AK, Ebrahimi-Fakhari D, Sahin M. Saffari A, et al. Among authors: buttermore ed. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. Nat Commun. 2024. PMID: 38233389 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.
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.
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.
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.
Loureiro LO, Howe JL, Reuter MS, Iaboni A, Calli K, Roshandel D, Pritišanac I, Moses A, Forman-Kay JD, Trost B, Zarrei M, Rennie O, Lau LYS, Marshall CR, Srivastava S, Godlewski B, Buttermore ED, Sahin M, Hartley D, Frazier T, Vorstman J, Georgiades S, Lewis SME, Szatmari P, Bradley CAL, Tabet AC, Willems M, Lumbroso S, Piton A, Lespinasse J, Delorme R, Bourgeron T, Anagnostou E, Scherer SW. Loureiro LO, et al. Among authors: buttermore ed. NPJ Genom Med. 2021 Nov 4;6(1):91. doi: 10.1038/s41525-021-00254-0. NPJ Genom Med. 2021. PMID: 34737294 Free PMC article.
22 results