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Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
Harb JF, Christensen CL, Kan SH, Rha AK, Andrade-Heckman P, Pollard L, Steet R, Huang JY, Wang RY. Harb JF, et al. Among authors: huang jy. Mol Ther Nucleic Acids. 2023 Aug 26;34:102022. doi: 10.1016/j.omtn.2023.08.024. eCollection 2023 Dec 12. Mol Ther Nucleic Acids. 2023. PMID: 37727271 Free PMC article.
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay.
Vermehren-Schmaedick A, Huang JY, Levinson M, Pomaville MB, Reed S, Bellus GA, Gilbert F, Keren B, Heron D, Haye D, Janello C, Makowski C, Danhauser K, Fedorov LM, Haack TB, Wright KM, Cohen MS. Vermehren-Schmaedick A, et al. Among authors: huang jy. Cells. 2021 May 22;10(6):1289. doi: 10.3390/cells10061289. Cells. 2021. PMID: 34067418 Free PMC article.
Neprilysin-2 is an important β-amyloid degrading enzyme.
Hafez D, Huang JY, Huynh AM, Valtierra S, Rockenstein E, Bruno AM, Lu B, DesGroseillers L, Masliah E, Marr RA. Hafez D, et al. Among authors: huang jy. Am J Pathol. 2011 Jan;178(1):306-12. doi: 10.1016/j.ajpath.2010.11.012. Epub 2010 Dec 23. Am J Pathol. 2011. PMID: 21224067 Free PMC article.