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Disease modeling and gene correction of LGMDR21 iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration, and the satellite cell niche.
Ortiz-Vitali JL, Wu J, Xu N, Shieh AW, Niknejad N, Takeuchi M, Paradas C, Lin C, Jafar-Nejad H, Haltiwanger RS, Wang SH, Darabi R. Ortiz-Vitali JL, et al. Among authors: haltiwanger rs. Mol Ther Nucleic Acids. 2023 Aug 2;33:683-697. doi: 10.1016/j.omtn.2023.07.037. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37650119 Free PMC article.
Analysis of endogenous NOTCH1 from POFUT1 S162L patient fibroblasts reveals the importance of the O -fucose modification on EGF12 in human development.
Matsumoto K, Luther KB, Haltiwanger RS. Matsumoto K, et al. Among authors: haltiwanger rs. bioRxiv [Preprint]. 2024 Apr 9:2024.04.09.588484. doi: 10.1101/2024.04.09.588484. bioRxiv. 2024. Update in: Glycobiology. 2024 Jun 22;34(8):cwae047. doi: 10.1093/glycob/cwae047 PMID: 38645096 Free PMC article. Updated. Preprint.
153 results