Publications & Awards | Overview
Note: List of publications from researchers at Boston Children’s Hospital who used the core facility.
2024
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. Nat Commun. 2024 Jan 17;15(1):584. doi: 10.1038/s41467-023-44264-1. PMID: 38233389
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. Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. PMID: 38110041
2023
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs. Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer. Computational and Structural Biotechnology Journal. 2023 Dec 29; https://doi.org/10.1016/j.csbj.2023.12.036
Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. Winden KD, Pham TT, Teaney NA, Ruiz J, Chen R, Chen C, Sahin M. Cell Rep. 2023 Aug 29;42(8):112838. doi: 10.1016/j.celrep.2023.112838. Epub 2023 Jul 25. PMID: 37494191 Free PMC article.
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells. Whye D, Wood D, Saber WA, Norabuena EM, Makhortova NR, Sahin M, Buttermore ED. Curr Protoc. 2023 Jan;3(1):e641. doi: 10.1002/cpz1.641. PMID: 36633423
2022
Myelin-, reactive glia-, and scar-derived CNS axon growth inhibitors: expression, receptor signaling, and correlation with axon regeneration. Sandvig A, Berry M, Barrett LB, Butt A, Logan A. Glia. 2004 May;46(3):225-51. doi: 10.1002/glia.10315. PMID: 15048847 Review.
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. Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022. PMID: 36405918
Bortezomib-induced neurotoxicity in human neurons is the consequence of nicotinamide adenine dinucleotide depletion. Snavely AR, Heo K, Petrova V, Ho TS, Huang X, Hermawan C, Kagan R, Deng T, Singeç I, Chen L, Barret LB, Woolf CJ. Dis Model Mech. 2022 Dec 1;15(12):dmm049358. doi: 10.1242/dmm.049358. Epub 2022 Dec 8. PMID: 36398590
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities. Whye D, Wood D, Kim KH, Chen C, Makhortova N, Sahin M, Buttermore ED. Curr Protoc. 2022 Oct;2(10):e568. doi: 10.1002/cpz1.568. PMID: 36264199
Automated preclinical detection of mechanical pain hypersensitivity and analgesia. Zhang Z, Roberson DP, Kotoda M, Boivin B, Bohnslav JP, González-Cano R, Yarmolinsky DA, Lenfers Turnes R, Wimalasena NK, Neufeld SQ, Barrett L, Quintão NLM, Fattori V, Taub DG, Wiltschko AB, Andrews N, Harvey CD, Datta SR, Woolf CJ. Pain. 2022 May 11;(0). doi: 10.1097/j.pain.0000000000002680. Online ahead of print.
Cannabidiol activates neuronal Kv7 channels. Zhang HB, Heckman L, Niday Z, Jo S, Fujita A, Shim J, Pandey R, Al Jandal H, Jayakar S, Barrett LB, Smith J, Woolf CJ, Bean BP. Elife. 2022 Feb 18;11:e73246. doi: 10.7554/eLife.73246.
Crossing unlikely paths in science, Dosh Whye, J Cell Sci., 2022 May 1;135(9):jcs260037. doi: 10.1242/jcs.260037. Epub 2022 May 6. PMID: 35522157 DOI: 10.1242/jcs.260037
Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish. Robens BK, Yang X, McGraw CM, Turner LH, Robens C, Thyme S, Rotenberg A, Poduri A. Neurobiol Dis. 2022 Jul;169:105738. doi: 10.1016/j.nbd.2022.105738. Epub 2022 Apr 20. PMID: 35460869
Serine/Threonine Protein Phosphatase 2A Regulates the Transport of Axonal Mitochondria. Heo K, Basu H, Gutnick A, Wei W, Shlevkov E, Schwarz TL. Front Cell Neurosci. 2022 Mar 18;16:852245. doi: 10.3389/fncel.2022.852245. eCollection 2022. PMID: 35370563
2021
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. NPJ Genom Med. 2021 Nov 4;6(1):91. doi: 10.1038/s41525-021-00254-0.
Enhanced prime editing systems by manipulating cellular determinants of editing outcomes.Chen PJ, Hussmann JA, Yan J, Knipping F, Ravisankar P, Chen PF, Chen C, Nelson JW, Newby GA, Sahin M, Osborn MJ, Weissman JS, Adamson B, Liu DR. Cell. 2021 Oct 28;184(22):5635-5652.e29. doi: 10.1016/j.cell.2021.09.018. Epub 2021 Oct 14. PMID: 34653350
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. J Med Internet Res. 2021 Mar 16;23(3):e21023. doi: 10.2196/21023.
Topoisomerase I inhibition and peripheral nerve injury induce DNA breaks and ATF3-associated axon regeneration in sensory neurons. Cheng YC, Snavely A, Barrett LB, Zhang X, Herman C, Frost DJ, Riva P, Tochitsky I, Kawaguchi R, Singh B, Ivanis J, Huebner EA, Arvanites A, Oza V, Davidow L, Maeda R, Sakuma M, Grantham A, Wang Q, Chang AN, Pfaff K, Costigan M, Coppola G, Rubin LL, Schwer B, Alt FW, Woolf CJ. Cell Rep. 2021 Sep 7;36(10):109666. doi: 10.1016/j.celrep.2021.109666.
Human amyotrophic lateral sclerosis excitability phenotype screen: Target discovery and validation. Xuan Huang, Kasper C.D. Roet, Liying Zhang, ..., Seungkyu Lee, Kevin Eggan, Clifford J. Woolf, Cell Reports 35, 109224 June 8, 2021
Small Molecule Modulators of INAVA Cytosolic Condensate and Cell-Cell Junction Assemblies" by Denis Chang, Phi Luong, Qian Li, Jamie LeBarron, Michael Anderson, Lee Barrett, and Wayne Lencer. 2021, JBC, DOI: 10.1083/jcb.202007177.
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Sundberg M, Pinson H, Smith RS, Winden KD, Venugopal P, Tai DJC, Gusella JF, Talkowski ME, Walsh CA, Tegmark M, Sahin M.Nat Commun. 2021 May 18;12(1):2897. doi: 10.1038/s41467-021-23113-z.PMID: 34006844
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. Li J, Hojlo MA, Chennuri S, Gujral N, Paterson HL, Shefchek KA, Genetti CA, Cohn EL, Sewalk KC, Garvey EA, Buttermore ED, Anderson NC, Beggs AH, Agrawal PB, Brownstein JS, Haendel MA, Holm IA, Gonzalez-Heydrich J, Brownstein CA. J Med Internet Res. 2021 Mar 16;23(3):e21023. doi: 10.2196/21023. PMID: 33724192
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. Stem Cell Res. 2021 May;53:102276. doi: 10.1016/j.scr.2021.102276. Epub 2021 Mar 5. PMID: 33714067
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Ebrahimi-Fakhari D, Alecu JE, Brechmann B, Ziegler M, Eberhardt K, Jumo H, D'Amore A, Habibzadeh P, Faghihi MA, De Bleecker JL, Vuillaumier-Barrot S, Auvin S, Santorelli FM, Neuser S, Popp B, Yang E, Barrett L, Davies AK, Saff. Brain Commun. 2021 Sep 25;3(4):fcab221. doi: 10.1093/braincomms/fcab221. eCollection 2021.
2020
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.Di Nardo A, Lenoël I, Winden KD, Rühmkorf A, Modi ME, Barrett L, Ercan-Herbst E, Venugopal P, Behne R, Lopes CAM, Kleiman RJ, Bettencourt-Dias M, Sahin M. Cell Rep. 2020 Jun 23;31(12):107780. doi: 10.1016/j.celrep.2020.107780. PMID: 32579942
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. Hum Mol Genet. 2020 Jan 15;29(2):320-334. doi: 10.1093/hmg/ddz310. PMID: 31915823 Free PMC article.
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Ziegler M, Russell BE, Eberhardt K, Geisel G, D'Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. Neurol Genet. 2020 Dec 29;7(1):e544. doi: 10.1212/NXG.0000000000000544. eCollection 2021 Feb. PMID: 33553621 Free PMC article.
2019
Diltiazem Promotes Regenerative Axon Growth. Huebner EA, Budel S, Jiang Z, Omura T, Ho TS, Barrett L, Merkel JS, Pereira LM, Andrews NA, Wang X, Singh B, Kapur K, Costigan M, Strittmatter SM, Woolf CJ. Mol Neurobiol. 2019 Jun;56(6):3948-3957. doi: 10.1007/s12035-018-1349-5. Epub 2018 Sep 19. PMID: 30232777
Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. Valencia AM, Collings CK, Dao HT, St Pierre R, Cheng YC, Huang J, Sun ZY, Seo HS, Mashtalir N, Comstock DE, Bolonduro O, Vangos NE, Yeoh ZC, Dornon MK, Hermawan C, Barrett L, Dhe-Paganon S, Woolf CJ, Muir TW, Kadoch C. Cell. 2019 Nov 27;179(6):1342-1356.e23. doi: 10.1016/j.cell.2019.10.044. Epub 2019 Nov 20. PMID: 31759698
Kinetochore Proteins Have a Post-Mitotic Function in Neurodevelopment. Zhao G, Oztan A, Ye Y, Schwarz TL. Dev Cell. 2019 Mar 25;48(6):873-882.e4. doi: 10.1016/j.devcel.2019.02.003. Epub 2019 Feb 28. PMID: 30827899
A High-Content Screen Identifies TPP1 and Aurora B as Regulators of Axonal Mitochondrial Transport. Shlevkov E, Basu H, Bray MA, Sun Z, Wei W, Apaydin K, Karhohs K, Chen PF, Smith JLM, Wiskow O, Roet K, Huang X, Eggan K, Carpenter AE, Kleiman RJ, Schwarz TL. Cell Rep. 2019 Sep 17;28(12):3224-3237.e5. doi: 10.1016/j.celrep.2019.08.035. PMID: 31533043
P2Y6 signaling in alveolar macrophages prevents leukotriene-dependent type 2 allergic lung inflammation. Nagai J, Balestrieri B, Fanning LB, Kyin T, Cirka H, Lin J, Idzko M, Zech A, Kim EY, Brennan PJ, Boyce JA. J Clin Invest. 2019 Oct 22. pii: 129761. doi: 10.1172/JCI129761. [Epub ahead of print]PMID: 31638598
Biallelic mutations in TSC2 lead to abnormalities associated with cortical tubers in human iPSC-derived neurons. Winden KD, Sundberg M, Yang C, Wafa SMA, Dwyer S, Chen PF, Buttermore ED, Sahin M. J Neurosci. 2019 Oct 7. pii: 0642-19. doi: 10.1523/JNEUROSCI.0642-19.2019. [Epub ahead of print] PMID: 31591157
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. Stem Cell Res. 2019 Oct;40:101575. doi: 10.1016/j.scr.2019.101575. Epub 2019 Sep 11., PMID: 31525725