Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.

Tafaleng, Edgar N; Li, Jie; Wang, Yan; Hidvegi, Tunda; Soto-Gutierrez, Alex; Locke, Adam E; Nicholas, Thomas J; Wang, Yung-Chun; Pak, Stephen; Cho, Michael H; Silverman, Edwin K; Silverman, Gary A; Jin, Sheng Chih; Fox, Ira J; Perlmutter, David H.

Hepatology ; 2024 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-38557779

2.

Regulation of PGC1α Downstream of the Insulin Signaling Pathway Plays a Role in the Hepatic Proteotoxicity of Mutant α1-Antitrypsin Deficiency Variant Z.

Rudnick, David A; Huang, Jiansheng; Hidvegi, Tunda; Chu, Andrew S; Hale, Pamela; Munanairi, Admire; Dietzen, Dennis J; Cliften, Paul F; Tycksen, Eric; Lutkewitte, Andrew J; Finck, Brian N; Pak, Stephen C; Silverman, Gary A; Perlmutter, David H.

Gastroenterology ; 163(1): 270-284, 2022 07.

Artigo em Inglês | MEDLINE | ID: mdl-35301011

3.

Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.

Berauer, John-Paul; Mezina, Anya I; Okou, David T; Sabo, Aniko; Muzny, Donna M; Gibbs, Richard A; Hegde, Madhuri R; Chopra, Pankaj; Cutler, David J; Perlmutter, David H; Bull, Laura N; Thompson, Richard J; Loomes, Kathleen M; Spinner, Nancy B; Rajagopalan, Ramakrishnan; Guthery, Stephen L; Moore, Barry; Yandell, Mark; Harpavat, Sanjiv; Magee, John C; Kamath, Binita M; Molleston, Jean P; Bezerra, Jorge A; Murray, Karen F; Alonso, Estella M; Rosenthal, Philip; Squires, Robert H; Wang, Kasper S; Finegold, Milton J; Russo, Pierre; Sherker, Averell H; Sokol, Ronald J; Karpen, Saul J.

Hepatology ; 70(3): 899-910, 2019 09.

Artigo em Inglês | MEDLINE | ID: mdl-30664273

4.

Mechanisms of Action of Autophagy Modulators Dissected by Quantitative Systems Pharmacology Analysis.

Shi, Qingya; Pei, Fen; Silverman, Gary A; Pak, Stephen C; Perlmutter, David H; Liu, Bing; Bahar, Ivet.

Int J Mol Sci ; 21(8)2020 Apr 19.

Artigo em Inglês | MEDLINE | ID: mdl-32325894

5.

Investing in the Advancement of Science.

Perlmutter, David H.

Mo Med ; 119(5): 429-431, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36337994

6.

Enhancing Autophagy with Drugs or Lung-directed Gene Therapy Reverses the Pathological Effects of Respiratory Epithelial Cell Proteinopathy.

Hidvegi, Tunda; Stolz, Donna B; Alcorn, John F; Yousem, Samuel A; Wang, Jieru; Leme, Adriana S; Houghton, A McGarry; Hale, Pamela; Ewing, Michael; Cai, Houming; Garchar, Evelyn Akpadock; Pastore, Nunzia; Annunziata, Patrizia; Kaminski, Naftali; Pilewski, Joseph; Shapiro, Steven D; Pak, Stephen C; Silverman, Gary A; Brunetti-Pierri, Nicola; Perlmutter, David H.

J Biol Chem ; 290(50): 29742-57, 2015 Dec 11.

Artigo em Inglês | MEDLINE | ID: mdl-26494620

7.

A genome-wide RNAi screen identifies potential drug targets in a C. elegans model of α1-antitrypsin deficiency.

O'Reilly, Linda P; Long, Olivia S; Cobanoglu, Murat C; Benson, Joshua A; Luke, Cliff J; Miedel, Mark T; Hale, Pamela; Perlmutter, David H; Bahar, Ivet; Silverman, Gary A; Pak, Stephen C.

Hum Mol Genet ; 23(19): 5123-32, 2014 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-24838285

8.

A C. elegans model of human α1-antitrypsin deficiency links components of the RNAi pathway to misfolded protein turnover.

Long, Olivia S; Benson, Joshua A; Kwak, Joon Hyeok; Luke, Cliff J; Gosai, Sager J; O'Reilly, Linda P; Wang, Yan; Li, Jie; Vetica, Anne C; Miedel, Mark T; Stolz, Donna B; Watkins, Simon C; Züchner, Stephan; Perlmutter, David H; Silverman, Gary A; Pak, Stephen C.

Hum Mol Genet ; 23(19): 5109-22, 2014 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-24838286

9.

Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults?

Chu, Andrew S; Chopra, Kapil B; Perlmutter, David H.

Liver Transpl ; 22(7): 886-94, 2016 07.

Artigo em Inglês | MEDLINE | ID: mdl-26946192

10.

Induced pluripotent stem cells model personalized variations in liver disease resulting from α1-antitrypsin deficiency.

Tafaleng, Edgar N; Chakraborty, Souvik; Han, Bing; Hale, Pamela; Wu, Wanquan; Soto-Gutierrez, Alejandro; Feghali-Bostwick, Carol A; Wilson, Andrew A; Kotton, Darrell N; Nagaya, Masaki; Strom, Stephen C; Roy-Chowdhury, Jayanta; Stolz, Donna B; Perlmutter, David H; Fox, Ira J.

Hepatology ; 62(1): 147-57, 2015 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-25690322

11.

Targeting intracellular degradation pathways for treatment of liver disease caused by α1-antitrypsin deficiency.

Wang, Yan; Perlmutter, David H.

Pediatr Res ; 75(1-2): 133-9, 2014 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-24226634

12.

Longitudinal modeling of human neuronal aging reveals the contribution of the RCAN1-TFEB pathway to Huntington's disease neurodegeneration.

Lee, Seong Won; Oh, Young Mi; Victor, Matheus B; Yang, Yan; Chen, Shawei; Strunilin, Ilya; Dahiya, Sonika; Dolle, Roland E; Pak, Stephen C; Silverman, Gary A; Perlmutter, David H; Yoo, Andrew S.

Nat Aging ; 4(1): 95-109, 2024 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-38066314

13.

Multiple Genes Core to ERAD, Macroautophagy and Lysosomal Degradation Pathways Participate in the Proteostasis Response in α1-Antitrypsin Deficiency.

Li, Jie; Moretti, Francesca; Hidvegi, Tunda; Sviben, Sanja; Fitzpatrick, James A J; Sundaramoorthi, Hemalatha; Pak, Stephen C; Silverman, Gary A; Knapp, Britta; Filipuzzi, Ireos; Alford, John; Reece-Hoyes, John; Nigsch, Florian; Murphy, Leon O; Nyfeler, Beat; Perlmutter, David H.

Cell Mol Gastroenterol Hepatol ; 17(6): 1007-1024, 2024.

Artigo em Inglês | MEDLINE | ID: mdl-38336172

14.

Clathrin pit-mediated endocytosis of neutrophil elastase and cathepsin G by cancer cells.

Gregory, Alyssa D; Hale, Pamela; Perlmutter, David H; Houghton, A McGarry.

J Biol Chem ; 287(42): 35341-35350, 2012 Oct 12.

Artigo em Inglês | MEDLINE | ID: mdl-22915586

15.

Alpha-1-antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates.

Perlmutter, David H.

Annu Rev Med ; 62: 333-45, 2011.

Artigo em Inglês | MEDLINE | ID: mdl-20707674

16.

Resolution of hepatic fibrosis after ZFN-mediated gene editing in the PiZ mouse model of human α1-antitrypsin deficiency.

Li, Yanfeng; Guha, Chandan; Asp, Patrik; Wang, Xia; Tchaikovskya, Tatyana L; Kim, Kenneth; Mendel, Matthew; Cost, Gregory J; Perlmutter, David H; Roy-Chowdhury, Namita; Fox, Ira J; Conway, Anthony; Roy-Chowdhury, Jayanta.

Hepatol Commun ; 7(3): e0070, 2023 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-36848094

17.

Longitudinal modeling of human neuronal aging identifies RCAN1-TFEB pathway contributing to neurodegeneration of Huntington's disease.

Lee, Seong Won; Oh, Young Mi; Victor, Matheus B; Strunilin, Ilya; Chen, Shawei; Dahiya, Sonika; Dolle, Roland E; Pak, Stephen C; Silverman, Gary A; Perlmutter, David H; Yoo, Andrew S.

Res Sq ; 2023 May 09.

Artigo em Inglês | MEDLINE | ID: mdl-37214956

18.

Age-related Huntington's disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy.

Oh, Young Mi; Lee, Seong Won; Kim, Woo Kyung; Chen, Shawei; Church, Victoria A; Cates, Kitra; Li, Tiandao; Zhang, Bo; Dolle, Roland E; Dahiya, Sonika; Pak, Stephen C; Silverman, Gary A; Perlmutter, David H; Yoo, Andrew S.

Nat Neurosci ; 25(11): 1420-1433, 2022 11.

Artigo em Inglês | MEDLINE | ID: mdl-36303071

19.

Two New Considerations for Improving the Diagnosis of α1-Antitrypsin Deficiency-Associated Liver Disease.

Perlmutter, David H; Chopra, Kapil; Chu, Andrew.

Dig Dis Sci ; 60(6): 1511-3, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25634676

20.

ADD66, a gene involved in the endoplasmic reticulum-associated degradation of alpha-1-antitrypsin-Z in yeast, facilitates proteasome activity and assembly.

Scott, Craig M; Kruse, Kristina B; Schmidt, Béla Z; Perlmutter, David H; McCracken, Ardythe A; Brodsky, Jeffrey L.

Mol Biol Cell ; 18(10): 3776-87, 2007 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-17634286

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