Selected Publications Supported by the Human Stem Cell Core
2019
Zhu PJ, Khatiwada S, Cui Y, Reineke LC, Dooling SW, Kim JJ, Li W, Walter P, Costa-Mattioli M. Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome, Science, 2019, 366(6467):843-849.
Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome, Sci Rep, 2019, 9(1):15935.
Mitra K, Feist WN, Anfossi S, Fuentes-Mattei E, Almeida MI, Kim JJ, Calin GA, Warmflash A. S-MiRAGE: A Quantitative, Secreted RNA-Based Reporter of Gene Expression and Cell Persistence, ACS Synth Biol, 2019, 8(1):25-33.
Kim JJ, Savas JN, Miller MT, Hu X, Carromeu C, Lavallee-Adam M, Freitas BCG, Muotri AR, Yates JR, 3rd, Ghosh A. Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function, PLoS One, 2019, 14(2):e0212553.
2018
Rousseaux MWC, Vazquez-Velez GE, Al-Ramahi I, Jeong HH, Bajic A, Revelli JP, Ye H, Phan ET, Deger JM, Perez AM, Kim JY, Lavery LA, Xu Q, Li MZ, Kang H, Kim JJ, Shulman JM, Westbrook TF, Elledge SJ, Liu Z, Botas J, Zoghbi HY. A Druggable Genome Screen Identifies Modifiers of alpha-Synuclein Levels via a Tiered Cross-Species Validation Approach, J Neurosci, 2018, 38(43):9286-9301.
Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension, Am J Hum Genet, 2018, 103(2):276-287.
Chen CY, Lanz RB, Walkey CJ, Chang WH, Lu W, Johnson DL. Maf1 and Repression of RNA Polymerase III-Mediated Transcription Drive Adipocyte Differentiation, Cell Rep, 2018, 24(7):1852-1864.
Brookhouser N, Zhang P, Caselli R, Kim JJ, Brafman DA. Generation and characterization of two human induced pluripotent stem cell (hiPSC) lines homozygous for the Apolipoprotein e4 (APOE4) risk variant-Alzheimer's disease (ASUi005-A) and healthy non-demented control (ASUi006-A), Stem Cell Res, 2018, 32:145-149.
2017
Wu J, Hunt SD, Matthias N, Servian-Morilla E, Lo J, Jafar-Nejad H, Paradas C, Darabi R. Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi), Stem Cell Res, 2017, 24:102-105.
Liu R, Lee J, Kim BS, Wang Q, Buxton SK, Balasubramanyam N, Kim JJ, Dong J, Zhang A, Li S, Gupte AA, Hamilton DJ, Martin JF, Rodney GG, Coarfa C, Wehrens XH, Yechoor VK, Moulik M. Tead1 is required for maintaining adult cardiomyocyte function, and its loss results in lethal dilated cardiomyopathy, JCI Insight, 2017, 2(17).
Jung SY, Choi JM, Rousseaux MW, Malovannaya A, Kim JJ, Kutzera J, Wang Y, Huang Y, Zhu W, Maity S, Zoghbi HY, Qin J. An Anatomically Resolved Mouse Brain Proteome Reveals Parkinson Disease-relevant Pathways, Mol Cell Proteomics, 2017, 16(4):581-593.
Gillentine MA, Yin J, Bajic A, Zhang P, Cummock S, Kim JJ, Schaaf CP. Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells, Am J Hum Genet, 2017, 101(6):874-887.
Brookhouser N, Zhang P, Caselli R, Kim JJ, Brafman DA. Generation and characterization of human induced pluripotent stem cell (hiPSC) lines from an Alzheimer's disease (ASUi003-A) and non-demented control (ASUi004-A) patient homozygous for the Apolipoprotein e4 (APOE4) risk variant, Stem Cell Res, 2017, 25:266-269.
Brookhouser N, Zhang P, Caselli R, Kim JJ, Brafman DA. Generation and characterization of human induced pluripotent stem cell (hiPSC) lines from an Alzheimer's disease (ASUi001-A) and non-demented control (ASUi002-A) patient homozygous for the Apolipoprotein e4 (APOE4) risk variant, Stem Cell Res, 2017, 24:160-163.