Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons Lehmann J, Aly A, Steffke C, Fabbio L, Mayer V, Dikwella N, Halablab K, Roselli F, Seiffert S, Boeckers TM, Brenner D, Kabashi E, Mulaw M*, Ho R*, Catanese A*. Cell death & disease, Aug 01, 2024; 15, (8): (560). doi: 10.1038/s41419-024-06957-3. PubMed PMID: 39097602
Disease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls Tsitkov S, Valentine K, Kozareva V, Donde A, Frank A, Lei S; Answer ALS Consortium; E Van Eyk J, Finkbeiner S, Rothstein JD, Thompson LM, Sareen D, Svendsen CN, Fraenkel E. Nat Commun. 2024 May 2;15(1):3606. doi: 10.1038/s41467-024-47758-8.PMID: 38697975
Targeted proteomics upon Tofersen identifies candidate response markers for SOD1-linked amyotrophic lateral sclerosis Steffke C, Baskar K, Wiesenfarth M, Dorst J, Schuster J, Schöberl F, Reilich P, Regensburger M, German A, Günther R, Vidovic M, Petri S, Weishaupt JH, Meyer T, Hagenacker T, Grosskreutz J, Weyen U, Weydt P, Haarmeier T, Lingor P, Wolf J, Hermann A, Prudlo J, Günther K, Knehr A, Elmas Z, Parlak Ö, Uzelac Z, Witzel S, Ruf WP, Tumani H, Ludolph AC, Freischmidt A, Oeckl P, Ho R, Brenner D, Catanese A. medRxiv 2024.04.22.24306165.
Multi-lineage heart-chip models drug cardiotoxicity and enhances maturation of human stem cell-derived cardiovascular cells Mozneb M, Jenkins A, Sances S, Pohlman S, Workman MJ, West D, Ondatje B, El-Ghazawi K, Woodbury A, Garcia VJ, Patel S, Arzt M, Dezem F, Laperle AH, Moser VA, Ho R, Yucer N, Plummer J, Barrett RJ, Svendsen CN, Sharma A. Lab Chip. 2024 Feb 13;24(4):869-881. doi: 10.1039/d3lc00745f.PMID: 38252454
Inhibition of Ephrin B2 Reverse Signaling Abolishes Multiple Myeloma Pathogenesis Sasine JP, Kozlova NY, Valicente L, Dukov J, Tran DH, Himburg HA, Kumar S, Khorsandi S, Chan A, Grohe S, Li M, Kan J, Sehl ME, Schiller GJ, Reinhardt B, Singh BK, Ho R, Yue P, Pasquale EB, Chute JP. Cancer Res. 2024 Mar 15;84(6):919-934. doi: 10.1158/0008-5472.CAN-23-1950.PMID: 38231476
Human iPSC-derived neural progenitor cells secreting GDNF provide protection in rodent models of ALS and retinal degeneration Laperle AH, Moser VA, Avalos P, Lu B, Wu A, Fulton A, Ramirez S, Garcia VJ, Bell S, Ho R, Lawless G, Roxas K, Shahin S, Shelest O, Svendsen S, Wang S, and Svendsen CN. Stem Cell Reports. 2023. Apr 15;S2213-6711(23)00104-2. doi:10.1016/j.stemcr.2023.03.016
Multiomics and machine-learning identify novel transcriptional and mutational signatures in amyotrophic lateral sclerosis Catanese A, Rajkumar S, Sommer D, Masrori P, Hersmus N, Van Damme P, Witzel C, Ludolph A, Ho R, Boeckers TM, and Mulaw M. Brain. 2023. Mar 08; https://doi.org/10.1093/brain/awad075
Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects Workman MJ, Lim RG, Wu J, Frank A, Ornelas L, Panther L, Galvez E, Perez D, Meepe I, Lei S, Valencia V, Gomez E, Liu C, Moran R, Pinedo L, Tsitkov S, Ho R, Kaye JA, the Answer ALS Consortium, Thompson T, Rothstein JD, Finkbeiner S, Fraenkel E, Sareen D, Thompson LM, and Svendsen CN. Neuron. 2023. Apr 19; doi: https://doi.org/10.1016/j.neuron.2023.01.010
NeuroLINCS Proteomics: Defining human-derived iPSC proteomes and protein signatures of pluripotency Matlock AD, Vaibhav V, Holewinski R, Venkatraman V, Dardov V, Manalo DM, Shelley B, Ornelas L, Banuelos M, Mandefro B, Escalante-Chong R, Li J, Finkbeiner S, Fraenkel E, Rothstein J, Thompson L, Sareen D, Svendsen CN; NIH NeuroLINCS Consortium; Van Eyk JE. Sci Data. 2023 Jan 11;10(1):24. doi: 10.1038/s41597-022-01687-7. PMID: 36631473
Transcriptomic analysis of human ALS skeletal muscle reveals a disease-specific pattern of dysregulated circRNAs Tsitsipatis D, Mazan-Mamczarz K, Si Y, Herman AB, Yang JH, Guha A, Piao Y, Fan J, Martindale JL, Munk R, Yang X, De S, Singh BK, Ho R, Myriam Gorospe M, King PH. Aging (Albany NY). 2022. Dec 30;14(24):9832-9859. doi: 10.18632/aging.204450. PMID: 36585921
Identifying patterns in amyotrophic lateral sclerosis progression from sparse longitudinal data Ramamoorthy, D., Severson, K., Ghosh, S. et al. Nat Comput Sci. 2, 605–616 (2022). https://doi.org/10.1038/s43588-022-00299-w
CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity Guo W, Wang H, Tharkeshwar AK, Couthouis J, Braems E, Masrori P, Van Schoop E, Fan Y, Ahuja K, Moisse M, Jacquemyn M, Madeiro da Costal RF, Gaijar,M, Balusu S, Tricot T, Fumagalli L, Hersmus N, Janky R, Impens F, Vanden Berghe P, Ho R, Thal DR, Vandenberghe R, Hegde ML, Chandran S, De Strooper B, Daelemans D, Van Damme P, Van Den Bosch L, and Verfaillie C. Alzheimers Dement. 2022. Aug 22. doi: 10.1002/alz.12760. PMID: 35993441
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS. Braems E, Bercier V, Van Schoor E, Heeren K, Beckers J, Fumagalli L, Dedeene L, Moisse M, Geudens I, Hersmus N, Mehta AR, Selvaraj BT, Chandran S, Ho R, Thal Dr, Van Damme P, Swinnen B, Van Den Bosch L. Acta Neuropathol. 2022. Jul 27; doi: https://doi.org/10.1007/s00401-022-02471-y
Aging-Dependent Altered Transcriptional Programs Underlie Activity Impairments in Human C9orf72-Mutant Motor Neurons. Sommer D, Rajkumar S, Seidel M, Aly A, Ludolph A, Ho R*, Boeckers TM*, Catanese A*. Front. Mol. Neurosci. 2022 Jun 14; doi: https://doi.org/10.3389/fnmol.2022.894230
Single-cell Atlas Unveils Cellular Heterogeneity and Novel Markers in Human Neonatal and Adult Intervertebral Discs. Jiang W, Glaeser JD, Salehi K, Kaneda G, Mathkar M, Wagner A, Ho R*, Sheyn D*. iScience. 2022 Jun 1; doi: https://doi.org/10.1101/2021.10.20.465219
Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. Baxi, EG, Thompson, T, Li, J. et al. Nat Neurosci. 2022 Feb 3; https://doi.org/10.1038/s41593-021-01006-0
Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures. Ho R*, Workman MJ, Mathkar P, Wu K, Kim KJ, O’Rourke JG, Kellogg M, Montel V, Banuelos MG, Aladesuyi O, Diaz-Garcia S, Oheb D, Huang S, Khrebtukova I, Watson L, Ravits J, Taylor K, Baloh RH, Svendsen CN*. Cell Systems. 2021 Feb 17;12; https://doi.org/10.1016/j.cels.2020.10.010. PMID: 33382996
C9orf72 in myeloid cells suppresses STING-induced inflammation. McCauley ME, O’Rourke JG, Yáñez A, Markman J, Ho R, Wang X, Chen S, Lall D, Jin M, Muhammad AKMG, Bell S, Landeros J, Valencia V, Harms M, Arditi M, Jefferies C, Baloh RH. Nature. 2020 Sep 3;584; https://doi.org/10.1038/s41586-020-2625-x. PMID: 32814898
iPSC modeling of young-onset Parkinson’s disease reveals a molecular signature of disease and novel therapeutic candidates. Laperle AH, Sances S, Yucer N, Dardov VJ, Garcia VJ, Ho R, Fulton AN, Jones MR, Roxas KM, Avalos P, West D, Banuelos MG, Shu Z, Murali R, Maidment NT, Van Eyk JE, Tagliati M, Svendsen CN. Nat Med. 2020 Feb;26(2):289-299. doi: 10.1038/s41591-019-0739-1. Epub 2020 Jan 27. PMID: 31988461
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model. Zhou Y, Carmona S, Muhammad AKMG, Bell S, Landeros J, Vazquez M, Ho R, Franco A, Lu B, Dorn GW 2nd, Wang S, Lutz CM, Baloh RH. J Clin Invest. 2019 Mar 18;130(4):1756-1771. doi: 10.1172/JCI124194. eCollection 2019 Mar 18. PMID: 30882371
Human iPSC-Derived Endothelial Cells and Microengineered Organ-Chip Enhance Neuronal Development. Sances S, Ho R, Vatine G, West D, Laperle A, Meyer A, Godoy M, Kay PS, Mandefro B, Hatata S, Hinojosa C, Wen N, Sareen D, Hamilton GA, Svendsen CN. Stem Cell Reports. 2018 Apr 10;10(4):1222-1236. doi: 10.1016/j.stemcr.2018.02.012. Epub 2018 Mar 22. PMID: 29576540
The Library of Integrated Network-Based Cellular Signatures NIH Program: System-Level Cataloging of Human Cells Response to Perturbations. Keenan AB, Jenkins SL, Jagodnik KM, Koplev S, He E, Torre D, Wang Z, Dohlman AB, Silverstein MC, Lachmann A, Kuleshov MV, Ma’ayan A, Stathias V, Terryn R, Cooper D, Forlin M, Koleti A, Vidovic D, Chung C, Schürer SC, Vasiliauskas J, Pilarczyk M, Shamsaei B, Fazel M, Ren Y, Niu W, Clark NA, White S, Mahi N, Zhang L, Kouril M, Reichard JF, Sivaganesan S, Medvedovic M, Meller J, Koch RJ, Birtwistle MR, Iyengar R, Sobie EA, Azeloglu EU, Kaye J, Osterloh J, Haston K, Kalra J, Finkbiener S, Li J, Milani P, Adam M, Escalante-Chong R, Sachs K, Lenail A, Ramamoorthy D, Fraenkel E, Daigle G, Hussain U, Coye A, Rothstein J, Sareen D, Ornelas L, Banuelos M, Mandefro B, Ho R, Svendsen CN, Lim RG, Stocksdale J, Casale MS, Thompson TG, Wu J, Thompson LM, Dardov V, Venkatraman V, Matlock A, Van Eyk JE, Jaffe JD, Papanastasiou M, Subramanian A, Golub TR, Erickson SD, Fallahi-Sichani M, Hafner M, Gray NS, Lin JR, Mills CE, Muhlich JL, Niepel M, Shamu CE, Williams EH, Wrobel D, Sorger PK, Heiser LM, Gray JW, Korkola JE, Mills GB, LaBarge M, Feiler HS, Dane MA, Bucher E, Nederlof M, Sudar D, Gross S, Kilburn DF, Smith R, Devlin K, Margolis R, Derr L, Lee A, Pillai A. Cell Syst. 2018 Jan 24;6(1):13-24. doi: 10.1016/j.cels.2017.11.001. Epub 2017 Nov 29. PMID: 29199020
Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier. Vatine GD, Al-Ahmad A, Barriga BK, Svendsen S, Salim A, Garcia L, Garcia VJ, Ho R, Yucer N, Qian T, Lim RG, Wu J, Thompson LM, Spivia WR, Chen Z, Van Eyk J, Palecek SP, Refetoff S, Shusta EV, Svendsen CN. Cell Stem Cell. 2017 Jun 1;20(6):831-843.e5. doi: 10.1016/j.stem.2017.04.002. Epub 2017 May 16. PMID: 28526555
ALS disrupts spinal motor neuron maturation and aging pathways within gene co-expression networks. Ho R, Sances S, Gowing G, Amoroso MW, O’Rourke JG, Sahabian A, Wichterle H, Baloh RH, Sareen D, Svendsen CN. Nat Neurosci. 2016 Sep;19(9):1256-67. doi: 10.1038/nn.4345. Epub 2016 Jul 18. PMID: 27428653
Modeling ALS with motor neurons derived from human induced pluripotent stem cells. Sances S, Bruijn LI, Chandran S, Eggan K, Ho R, Klim JR, Livesey MR, Lowry E, Macklis JD, Rushton D, Sadegh C, Sareen D, Wichterle H, Zhang SC, Svendsen CN. Nat Neurosci. 2016 Apr;19(4):542-53. doi: 10.1038/nn.4273. PMID: 27021939
C9orf72 is required for proper macrophage and microglial function in mice. O’Rourke JG, Bogdanik L, Yáñez A, Lall D, Wolf AJ, Muhammad AK, Ho R, Carmona S, Vit JP, Zarrow J, Kim KJ, Bell S, Harms MB, Miller TM, Dangler CA, Underhill DM, Goodridge HS, Lutz CM, Baloh RH. Science. 2016 Mar 18;351(6279):1324-9. doi: 10.1126/science.aaf1064. PMID: 26989253
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD. O’Rourke JG, Bogdanik L, Muhammad AKMG, Gendron TF, Kim KJ, Austin A, Cady J, Liu EY, Zarrow J, Grant S, Ho R, Bell S, Carmona S, Simpkinson M, Lall D, Wu K, Daughrity L, Dickson DW, Harms MB, Petrucelli L, Lee EB, Lutz CM, Baloh RH. Neuron. 2015 Dec 2;88(5):892-901. doi: 10.1016/j.neuron.2015.10.027. PMID: 26637796
X chromosome reactivation dynamics reveal stages of reprogramming to pluripotency. Pasque V, Tchieu J, Karnik R, Uyeda M, Sadhu Dimashkie A, Case D, Papp B, Bonora G, Patel S, Ho R, Schmidt R, McKee R, Sado T, Tada T, Meissner A, Plath K. Cell. 2014 Dec 18;159(7):1681-97. doi: 10.1016/j.cell.2014.11.040. PMID: 25525883
Stage-specific regulation of reprogramming to induced pluripotent stem cells by Wnt signaling and T cell factor proteins. Ho R*, Papp B*, Hoffman JA, Merrill BJ, Plath K. Cell Rep. 2013 Jun 27;3(6):2113-26. doi: 10.1016/j.celrep.2013.05.015. Epub 2013 Jun 20. PMID: 23791530
Mechanistic insights into reprogramming to induced pluripotency. Ho R*, Chronis C*, Plath K. J Cell Physiol. 2011 Apr;226(4):868-78. doi: 10.1002/jcp.22450. PMID: 20945378
The transcription factor NFIA controls the onset of gliogenesis in the developing spinal cord. Deneen B, Ho R, Lukaszewicz A, Hochstim CJ, Gronostajski RM, Anderson DJ. Neuron. 2006 Dec 21;52(6):953-68. doi: 10.1016/j.neuron.2006.11.019. PMID: 17178400