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Investing in the Advancement of Science.
Perlmutter DH. Perlmutter DH. Mo Med. 2022 Sep-Oct;119(5):429-431. Mo Med. 2022. PMID: 36337994 Free PMC article. No abstract available.
Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
Li J, Moretti F, Hidvegi T, Sviben S, Fitzpatrick JAJ, Sundaramoorthi H, Pak SC, Silverman GA, Knapp B, Filipuzzi I, Alford J, Reece-Hoyes J, Nigsch F, Murphy LO, Nyfeler B, Perlmutter DH. Li J, et al. Among authors: perlmutter dh. Cell Mol Gastroenterol Hepatol. 2024 Feb 7;17(6):1007-1024. doi: 10.1016/j.jcmgh.2024.02.006. Online ahead of print. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38336172 Free PMC article.
Resolution of hepatic fibrosis after ZFN-mediated gene editing in the PiZ mouse model of human α1-antitrypsin deficiency.
Li Y, Guha C, Asp P, Wang X, Tchaikovskya TL, Kim K, Mendel M, Cost GJ, Perlmutter DH, Roy-Chowdhury N, Fox IJ, Conway A, Roy-Chowdhury J. Li Y, et al. Among authors: perlmutter dh. Hepatol Commun. 2023 Feb 27;7(3):e0070. doi: 10.1097/HC9.0000000000000070. eCollection 2023 Mar 1. Hepatol Commun. 2023. PMID: 36848094 Free PMC article.
Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Oh YM, Lee SW, Kim WK, Chen S, Church VA, Cates K, Li T, Zhang B, Dolle RE, Dahiya S, Pak SC, Silverman GA, Perlmutter DH, Yoo AS. Oh YM, et al. Among authors: perlmutter dh. Nat Neurosci. 2022 Nov;25(11):1420-1433. doi: 10.1038/s41593-022-01185-4. Epub 2022 Oct 27. Nat Neurosci. 2022. PMID: 36303071 Free PMC article.
Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
Rudnick DA, Huang J, Hidvegi T, Chu AS, Hale P, Munanairi A, Dietzen DJ, Cliften PF, Tycksen E, Lutkewitte AJ, Finck BN, Pak SC, Silverman GA, Perlmutter DH. Rudnick DA, et al. Among authors: perlmutter dh. Gastroenterology. 2022 Jul;163(1):270-284. doi: 10.1053/j.gastro.2022.03.010. Epub 2022 Mar 15. Gastroenterology. 2022. PMID: 35301011 Free PMC article.
164 results