Perlmutter Lab
David Perlmutter, MD
David 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.
Principal investigator
![David Perlmutter, MD](https://pediatricgi.wustl.edu/files/2021/11/David-Perlmutter-MD-crop.jpg)
David Perlmutter, MD
Professor of Pediatrics, Gastroenterology, Hepatology and Nutrition
Researcher, Developmental Biology
Executive Vice Chancellor of Medical Affairs
Dean, School of Medicine
- Phone: 314-362-6837
Recent publications
- Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegenerationLee, 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., Jan 2024, In: Nature Aging. 4, 1, p. 95-109 15 p.Research output: Contribution to journal › Article › peer-review
- Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin DeficiencyLi, 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
- Age-related Huntington’s disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagyOh, Y. M., Lee, S. W., Kim, W. K., Chen, S., Church, V. A., Cates, K., Li, T., Zhang, B., Dolle, R. E., Dahiya, S., Pak, S. C., Silverman, G. A., Perlmutter, D. H. & Yoo, A. S., Nov 2022, In: Nature neuroscience. 25, 11, p. 1420-1433 14 p.Research output: Contribution to journal › Article › peer-review
- Investing in the Advancement of SciencePerlmutter, D. H., Sep 1 2022, In: Missouri Medicine. 119, 5, p. 429-431 3 p.Research output: Contribution to journal › Article › peer-review
- Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant ZRudnick, D. A., Huang, J., Hidvegi, T., Chu, A. S., Hale, P., Munanairi, A., Dietzen, D. J., Cliften, P. F., Tycksen, E., Lutkewitte, A. J., Finck, B. N., Pak, S. C., Silverman, G. A. & Perlmutter, D. H., Jul 2022, In: Gastroenterology. 163, 1, p. 270-284 15 p.Research output: Contribution to journal › Article › peer-review