Search Results - "Perlmutter DH"

Distinctive encoding reduces the Jacoby --Whitehouse illusion.

Authors: Gallo DA Perlmutter DH Moore CD et al.

Source: Memory & Cognition. Mar2008, Vol. 36 Issue 2, p461-466. 6p.

A pathogenic Tau mutation drives autophagy-lysosome dysfunction that limits Tau degradation in a model of frontotemporal dementia.

Authors: Mirfakhar FS Marsh JA Sato C et al.

Source: Nature communications [Nat Commun] 2026 Mar 31; Vol. 17 (1). Date of Electronic Publication: 2026 Mar 31.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

The polymerized protein response (PPR) is activated by genetic variants that polymerize in the ER and is mediated by NFκBp50.

Authors: Munanairi A Rudnick DA Huang J et al.

Source: Nature communications [Nat Commun] 2026 Apr 27; Vol. 17 (1). Date of Electronic Publication: 2026 Apr 27.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Sequelae and reversal of age-dependent alterations in mitochondrial dynamics via autophagy enhancement in reprogrammed human neurons.

Authors: Klinman E Kwon JS Dolle RE et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Oct 02. Date of Electronic Publication: 2025 Oct 02.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Investing in the Advancement of Science.

Authors: Perlmutter DH; Dean of the Washington University School of Medicine in St. Louis, Missouri. He is a Pediatric Gastroenterologist.

Source: Missouri medicine [Mo Med] 2022 Sep-Oct; Vol. 119 (5), pp. 429-431.

Publication Type: Journal Article

Journal Info: Publisher: Missouri State Medical Association Country of Publication: United States NLM ID: 0400744 Publication Model: Print Cited Medium: Internet ISSN: 0026-6620 (Print) Linking ISSN: 00266620 NLM ISO Abbreviation: Mo Med Subsets: MEDLINE

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

Authors: Tafaleng EN Li J Wang Y et al.

Source: Hepatology (Baltimore, Md.) [Hepatology] 2024 Oct 01; Vol. 80 (4), pp. 859-871. Date of Electronic Publication: 2024 Apr 01.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

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

Authors: Lee SW Oh YM Victor MB et al.

Source: Nature aging [Nat Aging] 2024 Jan; Vol. 4 (1), pp. 95-109. Date of Electronic Publication: 2023 Dec 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group US Country of Publication: United States NLM ID: 101773306 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2662-8465 (Electronic) Linking ISSN: 26628465 NLM ISO Abbreviation: Nat Aging Subsets: MEDLINE

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

Authors: Li J Moretti F Hidvegi T et al.

Source: Cellular and molecular gastroenterology and hepatology [Cell Mol Gastroenterol Hepatol] 2024; Vol. 17 (6), pp. 1007-1024. Date of Electronic Publication: 2024 Feb 07.

Publication Type: Journal Article

Journal Info: Publisher: American Gastroenterological Association Country of Publication: United States NLM ID: 101648302 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-345X (Electronic) Linking ISSN: 2352345X NLM ISO Abbreviation: Cell Mol Gastroenterol Hepatol Subsets: MEDLINE

A fluorescent reporter for rapid assessment of autophagic flux reveals unique autophagy signatures during C. elegans post-embryonic development and identifies compounds that modulate autophagy.

Authors: Dawson ZD Sundaramoorthi H Regmi S et al.

Source: Autophagy reports [Autophagy Rep] 2024; Vol. 3 (1). Date of Electronic Publication: 2024 Jul 11.

Publication Type: Journal Article

Journal Info: Publisher: Taylor and Francis Country of Publication: United States NLM ID: 9918383885906676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2769-4127 (Electronic) Linking ISSN: 27694127 NLM ISO Abbreviation: Autophagy Rep Subsets: PubMed not MEDLINE

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

Authors: Lee SW Oh YM Victor MB et al.

Source: Research square [Res Sq] 2023 May 09. Date of Electronic Publication: 2023 May 09.

Publication Type: Preprint; Journal Article

Journal Info: Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z.

Authors: Wang Y Cobanoglu MC Li J et al.

Source: PloS one [PLoS One] 2019 Jan 23; Vol. 14 (1), pp. e0209748. Date of Electronic Publication: 2019 Jan 23 (Print Publication: 2019).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

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

Authors: Li Y Guha C Asp P et al.

Source: Hepatology communications [Hepatol Commun] 2023 Feb 27; Vol. 7 (3), pp. e0070. Date of Electronic Publication: 2023 Feb 27 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 101695860 Publication Model: eCollection Cited Medium: Internet ISSN: 2471-254X (Electronic) Linking ISSN: 2471254X NLM ISO Abbreviation: Hepatol Commun Subsets: MEDLINE

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

Authors: Oh YM Lee SW Kim WK et al.

Source: Nature neuroscience [Nat Neurosci] 2022 Nov; Vol. 25 (11), pp. 1420-1433. Date of Electronic Publication: 2022 Oct 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

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

Authors: Rudnick DA Huang J Hidvegi T et al.

Source: Gastroenterology [Gastroenterology] 2022 Jul; Vol. 163 (1), pp. 270-284. Date of Electronic Publication: 2022 Mar 15.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Authors: Klionsky DJ Abdelmohsen K Abe A et al.

Source: Autophagy [Autophagy] 2016; Vol. 12 (1), pp. 1-222.

Publication Type: Guideline; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE

Deficient and Null Variants of SERPINA1 Are Proteotoxic in a Caenorhabditis elegans Model of α1-Antitrypsin Deficiency.

Authors: Cummings EE O'Reilly LP King DE et al.

Source: PloS one [PLoS One] 2015 Oct 29; Vol. 10 (10), pp. e0141542. Date of Electronic Publication: 2015 Oct 29 (Print Publication: 2015).

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.

Authors: Silverman RM Cummings EE O'Reilly LP et al.

Source: Genetics [Genetics] 2015 May; Vol. 200 (1), pp. 207-19. Date of Electronic Publication: 2015 Mar 18.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

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

Authors: O'Reilly LP Long OS Cobanoglu MC et al.

Source: Human molecular genetics [Hum Mol Genet] 2014 Oct 01; Vol. 23 (19), pp. 5123-32. Date of Electronic Publication: 2014 May 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

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

Authors: Long OS Benson JA Kwak JH et al.

Source: Human molecular genetics [Hum Mol Genet] 2014 Oct 01; Vol. 23 (19), pp. 5109-22. Date of Electronic Publication: 2014 May 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Fluphenazine reduces proteotoxicity in C. elegans and mammalian models of alpha-1-antitrypsin deficiency.

Authors: Li J Pak SC O'Reilly LP et al.

Source: PloS one [PLoS One] 2014 Jan 31; Vol. 9 (1), pp. e87260. Date of Electronic Publication: 2014 Jan 31 (Print Publication: 2014).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE