Recent Publications

  1. Zhang, S, Shu, H, Zhou, J, Rubin-Sigler, J, Yang, X, Liu, Y et al.. Deconvolution of polygenic risk score in single cells unravels cellular and molecular heterogeneity of complex human diseases. bioRxiv. 2024; :. doi: 10.1101/2024.05.14.594252. PubMed PMID:38798507 PubMed Central PMC11118500.
  2. Zhang, S, Moll, T, Rubin-Sigler, J, Tu, S, Li, S, Yuan, E et al.. Deep learning modeling of rare noncoding genetic variants in human motor neurons defines CCDC146 as a therapeutic target for ALS. medRxiv. 2024; :. doi: 10.1101/2024.03.30.24305115. PubMed PMID:38633814 PubMed Central PMC11023684.
  3. Lai, JD, Berlind, JE, Fricklas, G, Lie, C, Urenda, JP, Lam, K et al.. KCNJ2 inhibition mitigates mechanical injury in a human brain organoid model of traumatic brain injury. Cell Stem Cell. 2024;31 (4):519-536.e8. doi: 10.1016/j.stem.2024.03.004. PubMed PMID:38579683 .
  4. Zhao, Z, Sagare, AP, Ma, Q, Halliday, MR, Kong, P, Kisler, K et al.. Author Correction: Central role for PICALM in amyloid-β blood-brain barrier transcytosis and clearance. Nat Neurosci. 2024;27 (1):208. doi: 10.1038/s41593-023-01509-y. PubMed PMID:37985802 .
  5. Ortega, JA, Sasselli, IR, Boccitto, M, Fleming, AC, Fortuna, TR, Li, Y et al.. CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology. Sci Adv. 2023;9 (45):eadf7997. doi: 10.1126/sciadv.adf7997. PubMed PMID:37948524 PubMed Central PMC10637751.
  6. Sattler, R, Traynor, BJ, Robertson, J, Van Den Bosch, L, Barmada, SJ, Svendsen, CN et al.. Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit. Neurol Ther. 2023;12 (6):1821-1843. doi: 10.1007/s40120-023-00548-8. PubMed PMID:37847372 PubMed Central PMC10630271.
  7. Tsioras, K, Smith, KC, Edassery, SL, Garjani, M, Li, Y, Williams, C et al.. Analysis of proteome-wide degradation dynamics in ALS SOD1 iPSC-derived patient neurons reveals disrupted VCP homeostasis. Cell Rep. 2023;42 (10):113160. doi: 10.1016/j.celrep.2023.113160. PubMed PMID:37776851 PubMed Central PMC10785776.
  8. Hendricks, E, Quihuis, AM, Hung, ST, Chang, J, Dorjsuren, N, Der, B et al.. The C9ORF72 repeat expansion alters neurodevelopment. Cell Rep. 2023;42 (8):112983. doi: 10.1016/j.celrep.2023.112983. PubMed PMID:37590144 PubMed Central PMC10757587.
  9. Lorenzini, I, Alsop, E, Levy, J, Gittings, LM, Lall, D, Rabichow, BE et al.. Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features. Front Cell Neurosci. 2023;17 :1179796. doi: 10.3389/fncel.2023.1179796. PubMed PMID:37346371 PubMed Central PMC10279871.
  10. Isono, W, Kawasaki, T, Ichida, JK, Nagasaka, K, Hiraike, O, Umezawa, A et al.. Transcriptomic analysis of feeder-free culture system for maintaining naïve-state pluripotency in human pluripotent stem cells. Stem Cell Investig. 2023;10 :10. doi: 10.21037/sci-2022-043. PubMed PMID:37155477 PubMed Central PMC10122725.