Perlmutter Lab

David Perlmutter is internationally recognized for his research on the pathobiology of α1-antitrypsin deficiency, a rare disease in which a misfolded protein causes chronic liver failure and hepatocellular carcinoma. His work has led to advances in understanding the basic mechanisms of liver fibrosis and carcinoma and novel therapeutic strategies. Together with collaborators he has discovered a pipeline of drugs that can eliminate misfolded proteins and reverse the liver disease in model organisms. One of these drugs has advanced to phase II/III clinical trials. The class of drugs may also be utilized for other diseases caused by misfolded proteins, including Alzheimer’s disease and other age-dependent degenerative diseases.

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
• Email: perlmutterd@wustl.edu

Recent publications

• 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
• Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z
  July 1, 2022
  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
• Mechanisms of action of autophagy modulators dissected by quantitative systems pharmacology analysis
  April 1, 2020
  Mechanisms of action of autophagy modulators dissected by quantitative systems pharmacology analysisShi, Q., Pei, F., Silverman, G. A., Pak, S. C., Perlmutter, D. H., Liu, B. & Bahar, I., Apr 1 2020, In: International journal of molecular sciences. 21, 8, 2855.Research output: Contribution to journal › Article › peer-review
• αl-antitrypsin deficiency
  January 24, 2020
  αl-antitrypsin deficiencyRudnick, D. A. & Perlmutter, D. H., Jan 24 2020, The Liver: Biology and Pathobiology. wiley, p. 645-658 14 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review