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. Perlmutter and his collaborators recently discovered that a drug currently used for Type 2 diabetes may slow age-dependent degeneration in the nervous system and in the liver.

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

• 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
• Alpha-1-Antitrypsin Deficiency: A Misfolded Secretory Glycoprotein Damages the Liver by Proteotoxicity and Its Reduced Secretion Predisposes to Emphysematous Lung Disease Because of Protease-Inhibitor Imbalance
  January 1, 2022
  Alpha-1-Antitrypsin Deficiency: A Misfolded Secretory Glycoprotein Damages the Liver by Proteotoxicity and Its Reduced Secretion Predisposes to Emphysematous Lung Disease Because of Protease-Inhibitor ImbalancePerlmutter, D. H. & Mukherjee, A., Jan 1 2022, Encyclopedia of Cell Biology: Volume 1-6, Second Edition. Elsevier, Vol. 6. p. 589-602 14 p.Research output: Chapter in Book/Report/Conference proceeding › Chapter › 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