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2018 2
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14 results

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Page 1
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS.
Hung ST, Linares GR, Chang WH, Eoh Y, Krishnan G, Mendonca S, Hong S, Shi Y, Santana M, Kueth C, Macklin-Isquierdo S, Perry S, Duhaime S, Maios C, Chang J, Perez J, Couto A, Lai J, Li Y, Alworth SV, Hendricks E, Wang Y, Zlokovic BV, Dickman DK, Parker JA, Zarnescu DC, Gao FB, Ichida JK. Hung ST, et al. Cell. 2023 Feb 16;186(4):786-802.e28. doi: 10.1016/j.cell.2023.01.005. Epub 2023 Feb 7. Cell. 2023. PMID: 36754049 Free PMC article.
SYF2 suppression mitigates neurodegeneration in models of diverse forms of ALS.
Linares GR, Li Y, Chang WH, Rubin-Sigler J, Mendonca S, Hong S, Eoh Y, Guo W, Huang YH, Chang J, Tu S, Dorjsuren N, Santana M, Hung ST, Yu J, Perez J, Chickering M, Cheng TY, Huang CC, Lee SJ, Deng HJ, Bach KT, Gray K, Subramanyam V, Rosenfeld J, Alworth SV, Goodarzi H, Ichida JK. Linares GR, et al. Cell Stem Cell. 2023 Feb 2;30(2):171-187.e14. doi: 10.1016/j.stem.2023.01.005. Cell Stem Cell. 2023. PMID: 36736291 Free PMC article.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG); Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C. Alsharhan H, et al. J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1. J Inherit Metab Dis. 2021. PMID: 33583022 Free PMC article.
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ, Soveg F, Finn LS, So L, Gorman JA, Rosen ABI, Skoda-Smith S, Wheeler MM, Barrow KA, Rich LM, Debley JS, Bamshad MJ, Nickerson DA, Savan R, Torgerson TR, Rawlings DJ. Allenspach EJ, et al. J Exp Med. 2021 May 3;218(5):e20201195. doi: 10.1084/jem.20201195. J Exp Med. 2021. PMID: 33724365 Free PMC article.
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
Tambe MA, Ng BG, Shimada S, Wolfe LA, Adams DR; Undiagnosed Diseases Network; Gahl WA, Bamshad MJ, Nickerson DA, Malicdan MCV, Freeze HH. Tambe MA, et al. J Inherit Metab Dis. 2020 Sep;43(5):1037-1045. doi: 10.1002/jimd.12249. Epub 2020 Jun 3. J Inherit Metab Dis. 2020. PMID: 32395830 Free PMC article.
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.
Ushiki A, Zhang Y, Xiong C, Zhao J, Georgakopoulos-Soares I, Kane L, Jamieson K, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Shen Y, Lettice LA, Silveira-Lucas EL, Petit F, Ahituv N. Ushiki A, et al. Nat Commun. 2021 Apr 16;12(1):2282. doi: 10.1038/s41467-021-22470-z. Nat Commun. 2021. PMID: 33863876 Free PMC article.
14 results