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Research interests
As a physician-scientist, Perlmutter is internationally recognized for his research on alpha-1 antitrypsin deficiency (ATD), a genetic disorder in which accumulations of a misfolded protein can cause severe liver damage. His work has led to advances in the understanding of how cells dispose of misfolded proteins that cause cellular dysfunction as well as the development of a pipeline of ATD drugs that could eliminate the need for liver transplantation in those with the disorder. Since drugs in this pipeline target and enhance autophagy, a cellular degradation pathway which is critical for the functioning of all cells and declines with age, they also represent exciting candidates for prevention of cognitive decline and other degenerative diseases of aging. Through his research, his team has recently discovered a lead candidate drug that targets a natural cellular pathway in a way that may slow, or even prevent, age-dependent degenerative diseases of the liver, heart, and nervous system.
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Collaborations and top research areas from the last five years
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A pathogenic Tau mutation drives autophagy-lysosome dysfunction that limits Tau degradation in a model of frontotemporal dementia
Mirfakhar, F. S., Marsh, J. A., Sato, C., Schache, K. J., Minaya, M. A., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H., Macauley, S. L. & Karch, C. M., Dec 2026, In: Nature communications. 17, 1, 2699.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during C. elegans post-embryonic development and identifies compounds that modulate autophagy
Dawson, Z. D., Sundaramoorthi, H., Regmi, S., Zhang, B., Morrison, S., Fielder, S. M., Zhang, J. R., Hoang, H., Perlmutter, D. H., Luke, C. J., Silverman, G. A. & Pak, S. C., 2024, In: Autophagy Reports. 3, 1, 2371736.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegeneration
Lee, S. W., Oh, Y. M., Victor, M. B., Yang, Y., Chen, S., Strunilin, I., Dahiya, S., Dolle, R. E., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Jan 2024, In: Nature Aging. 4, 1, p. 95-109 15 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Link opens in a new tab Scopus citations -
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, J. A. J., Sundaramoorthi, H., Pak, S. C., Silverman, G. A., Knapp, B., Filipuzzi, I., Alford, J., Reece-Hoyes, J., Nigsch, F., Murphy, L. O., Nyfeler, B. & Perlmutter, D. H., Jan 2024, In: CMGH. 17, 6, p. 1007-1024 18 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency
Tafaleng, E. N., Li, J., Wang, Y., Hidvegi, T., Soto-Gutierrez, A., Locke, A. E., Nicholas, T. J., Wang, Y. C., Pak, S., Cho, M. H., Silverman, E. K., Silverman, G. A., Jin, S. C., Fox, I. J. & Perlmutter, D. H., Oct 1 2024, In: Hepatology. 80, 4, p. 859-871 13 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Scopus citations