Publications by authors named "David H Perlmutter"

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Sequelae and reversal of age-dependent alterations in mitochondrial dynamics via autophagy enhancement in reprogrammed human neurons.
Eva Klinman, Ji-Sun Kwon, Roland E Dolle, Stephen C Pak, Gary A Silverman, David H Perlmutter

bioRxiv· October 2025

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Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Edgar N Tafaleng, Jie Li, Yan Wang, Tunda Hidvegi, Alex Soto-Gutierrez, David H Perlmutter

Hepatology· October 2024

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A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during post-embryonic development and identifies compounds that modulate autophagy.
Zachary D Dawson, Hemalatha Sundaramoorthi, Suk Regmi, Bo Zhang, Stephanie Morrison, David H Perlmutter

Autophagy Rep· July 2024

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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, David H Perlmutter

Cell Mol Gastroenterol Hepatol· May 2024

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Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration.
Seong Won Lee, Young Mi Oh, Matheus B Victor, Yan Yang, Shawei Chen, David H Perlmutter

Nat Aging· January 2024

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Longitudinal modeling of human neuronal aging identifies RCAN1-TFEB pathway contributing to neurodegeneration of Huntington's disease.
Seong Won Lee, Young Mi Oh, Matheus B Victor, Ilya Strunilin, Shawei Chen, David H Perlmutter

Res Sq· May 2023

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Resolution of hepatic fibrosis after ZFN-mediated gene editing in the PiZ mouse model of human α1-antitrypsin deficiency.
Yanfeng Li, Chandan Guha, Patrik Asp, Xia Wang, Tatyana L Tchaikovskya, David H Perlmutter

Hepatol Commun· March 2023

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Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.
Young Mi Oh, Seong Won Lee, Woo Kyung Kim, Shawei Chen, Victoria A Church, David H Perlmutter

Nat Neurosci· November 2022

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Investing in the Advancement of Science.
David H Perlmutter

Mo Med· November 2022

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Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.
David A Rudnick, Jiansheng Huang, Tunda Hidvegi, Andrew S Chu, Pamela Hale, David H Perlmutter

Gastroenterology· July 2022

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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

Int J Mol Sci· April 2020

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An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z.
Yan Wang, Murat C Cobanoglu, Jie Li, Tunda Hidvegi, Pamela Hale, David H Perlmutter

PLoS One· November 2019

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Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
John-Paul Berauer, Anya I Mezina, David T Okou, Aniko Sabo, Donna M Muzny, David H Perlmutter

Hepatology· September 2019

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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 Differ· March 2019

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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

Sci Rep· December 2017

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Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Daniel J Klionsky, Kotb Abdelmohsen, Akihisa Abe, Md Joynal Abedin, Hagai Abeliovich, David H Perlmutter

Autophagy· October 2016

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α1-antitrypsin Deficiency: A Misfolded Secretory Protein Variant with Unique Effects on the Endoplasmic Reticulum.
David H Perlmutter

Endoplasmic Reticulum Stress Dis· September 2016

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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 Transpl· July 2016

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Current and Emerging Treatments for Alpha-1 Antitrypsin Deficiency.
David H Perlmutter

Gastroenterol Hepatol (N Y)· July 2016

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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, David H Perlmutter

PLoS One· June 2016

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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, David H Perlmutter

J Biol Chem· December 2015

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Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.
Edgar N Tafaleng, Souvik Chakraborty, Bing Han, Pamela Hale, Wanquan Wu, David H Perlmutter

Hepatology· July 2015

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Two New Considerations for Improving the Diagnosis of α1-Antitrypsin Deficiency-Associated Liver Disease.
David H Perlmutter, Kapil Chopra, Andrew Chu

Dig Dis Sci· June 2015

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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, Mark T Miedel, Gary A Silverman, David H Perlmutter

Genetics· May 2015

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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 Res Int· March 2015

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