DavidHPerlmutterMD

PubMed

• Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.
  Jie Li, Francesca Moretti, Tunda Hidvegi, Sanja Sviben, James A J Fitzpatrick, Hemalatha Sundaramoorthi, Stephen C Pak, Gary A Silverman, Britta Knapp, Ireos Filipuzzi...> ;Cellular and Molecular Gastroenterology and Hepatology. 2024 Feb 7
• Investing in the Advancement of Science.
  David H Perlmutter> ;Missouri Medicine. 2022 Nov 7
• 14 citations
  Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis
  Qingya Shi, Fen Pei, Gary A. Silverman, Stephen C. Pak, David H. Perlmutter, Bing Liu, Ivet Bahar> ;International Journal of Molecular Sciences. 2020 Apr 19
• 48 citations
  Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
  John-Paul Berauer, Anya Mezina, David T. Okou, Aniko Sabo, Donna M. Muzny, Richard A. Gibbs, Madhuri Hegde, Pankaj Chopra, David J. Cutler, David H. Perlmutter, Laura ...> ;Hepatology. 2019 Sep 1
• 14 citations
  An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z
  Yan Wang, Murat Can Cobanoglu, Jie Li, Tunda Hidvegi, Pamela Hale, Andrew S. Chu, Zhenwei Gong, Radhika Muzumdar, Gary A. Silverman, Ivet Bahar, David H. Perlmutter, > ;Plos One. 2019 Jan 23
• 12 citations
  NFκB mitigates the pathological effects of misfolded α1-antitrypsin by activating autophagy and an integrated program of proteostasis mechanisms.
  Amitava Mukherjee, Tunda Hidvegi, Patrick Araya, Michael Ewing, Donna B. Stolz, David H. Perlmutter> ;Cell Death and Differentiation. 2019 Mar 1
• 30 citations
  Quantitative assessment of cell fate decision between autophagy and apoptosis
  Bing Liu, Zoltán N. Oltvai, Hülya Bayır, Gary A. Silverman, Stephen C. Pak, David H. Perlmutter, Ivet Bahar> ;Scientific Reports. 2017 Dec 14
• 4 citations
  Current and Emerging Treatments for Alpha-1 Antitrypsin Deficiency.
  David H. Perlmutter> ;Gastroenterology & Hepatology. 2016 Jul 1
• 28 citations
  Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults?
  Andrew S. Chu, Kapil B. Chopra, David H. Perlmutter> ;Liver Transplantation. 2016 Jul 1
• 673 citations
  Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
  Vyas, J. M., Daniel J Klionsky, Kotb Abdelmohsen, Akihisa Abe, Md Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M Adams, Peter ...> ;Autophagy. 2016 Jan 1
• 50 citations
  Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
  Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe, Joynal Abedin, Hagai Abeliovich, Abraham Acevedo Arozena, Hiroaki Adachi, Christopher M. Adams, Peter D. Adams, Khos...> ;Autophagy. 2016 Jan 1
• 21 citations
  Enhancing autophagy with drugs or lung-directed gene therapy reverses the pathological effects of respiratory epithelial cell proteinopathy
  Tunda Hidvegi, Donna B. Stolz, John F. Alcorn, Samuel A. Yousem, Jieru Wang, Adriana S. Leme, A. McGarry Houghton, Pamela Hale, Michael Ewing, Houming Cai, Evelyn Akpa...> ;The Journal of Biological Chemistry. 2015 Dec 11
• 8 citations
  Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.
  Erin E. Cummings, Linda P. O’Reilly, Dale E. King, Richard M. Silverman, Mark T. Miedel, Cliff J. Luke, David H. Perlmutter, Gary A. Silverman, Stephen C. Pak> ;Plos One. 2015 Oct 29
• 56 citations
  Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.
  Tafaleng Edgar Naoe, Souvik Chakraborty, Bing Han, Pamela Hale, Wanquan Wu, Alejandro Soto-Gutierrez, Carol Feghali-Bostwick, Andrew A. Wilson, Darrell N. Kotton, Masa...> ;Hepatology. 2015 Jul 1
• 4 citations
  Two New Considerations for Improving the Diagnosis of α1-Antitrypsin Deficiency-Associated Liver Disease
  David H. Perlmutter, Kapil B. Chopra, Andrew S. Chu> ;Digestive Diseases and Sciences. 2015 Jan 30
• 1 citations
  The Aggregation-Prone Intracellular Serpin SRP-2 Fails to Transit the ER in Caenorhabditis elegans
  Richard M. Silverman, Erin E. Cummings, Linda P. O’Reilly, Gary A. Silverman, Cliff J. Luke, David H. Perlmutter, Stephen C. Pak> ;Genetics. 2015 Jan 1
• 7 citations
  Worming our way to novel drug discovery with the Caenorhabditis elegans proteostasis network, stress response and insulin-signaling pathways
  Linda P. O’Reilly, Joshua A. Benson, Erin E. Cummings, David H. Perlmutter, Gary A. Silverman, Stephen C. Pak> ;Expert Opinion on Drug Discovery. 2014 Aug 20
• 14 citations
  Capitalizing on the autophagic response for treatment of liver disease caused by alpha-1-antitrypsin deficiency and other genetic diseases.
  Andrew S. Chu, David H. Perlmutter, Yan Wang> ;Biomed Research International. 2014 Jun 3
• 27 citations
  A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency
  Linda P. O’Reilly, Olivia S. Long, Murat Can Cobanoglu, Joshua A. Benson, Cliff J. Luke, Mark T. Miedel, Pamela Hale, David H. Perlmutter, Ivet Bahar, Gary A. Silverma...> ;Human Molecular Genetics. 2014 May 16
• 21 citations
  A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover
  Olivia S. Long, Joshua A. Benson, Joon Hyeok Kwak, Cliff J. Luke, Sager J. Gosai, Linda P. O’Reilly, Yan Wang, Jie Li, Anne C. Vetica, Mark T. Miedel, Donna B. Stolz, ...> ;Human Molecular Genetics. 2014 May 16
• 154 citations
  C. elegans in high-throughput drug discovery.
  Linda P. O’Reilly, Cliff J. Luke, David H. Perlmutter, Gary A. Silverman, Stephen C. Pak> ;Advanced Drug Delivery Reviews. 2014 Apr 20
• 39 citations
  Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease
  Raafe Ghouse, Andrew S. Chu, Yan Wang, David H. Perlmutter> ;Disease Models & Mechanisms. 2014 Apr 1
• 29 citations
  Fluphenazine Reduces Proteotoxicity in C. elegans and Mammalian Models of Alpha-1-Antitrypsin Deficiency
  Jie Li, Stephen C. Pak, Linda P. O’Reilly, Joshua A. Benson, Yan Wang, Tunda Hidvegi, Pamela Hale, Christine S. Dippold, Michael Ewing, Gary A. Silverman, David H. Per...> ;Plos One. 2014 Jan 31
• 2 citations
  α1-Antitrypsin deficiency and the hepatocytes – An elegans solution to drug discovery
  Linda P. O’Reilly, David H. Perlmutter, Gary A. Silverman, Stephen C. Pak> ;The International Journal of Biochemistry & Cell Biology. 2014 Feb 1
• 12 citations
  Targeting intracellular degradation pathways for treatment of liver disease caused by α1-antitrypsin deficiency.
  Yan Wang, David H. Perlmutter> ;Pediatric Research. 2014 Jan 1
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