Perlmutter Lab

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

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

• Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency
  October 1, 2024
  Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiencyTafaleng, 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
• Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1–TFEB pathway to Huntington’s disease neurodegeneration
  January 1, 2024
  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. S., 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 Deficiency
  January 1, 2024
  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 autophagy
  November 1, 2022
  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 Science
  September 1, 2022
  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