Search Results - "Perlmutter DH"

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

Role of Protein Misfolding in Human Kidney Diseases.

Authors: Jaurreteche, Sebastián Brajkovic, María Luana Del Rosal, María Victoria et al.

Source: Biocell. 2026, Vol. 50 Issue 5, p1-30. 30p.

Author index.

Source: Gene Therapy. Dec98, Vol. 5 Issue 12, p1712. 5p.

Retrospective Database Analysis of Liver-Related Clinical Events in Adult and Pediatric Patients with Alpha-1 Antitrypsin Deficiency in the United States.

Authors: Hagiwara, May Divino, Victoria Munnangi, Swapna et al.

Source: Hepatic Medicine: Evidence & Research. Jul2024, Vol. 16, p55-64. 10p.

Z variant heterozygosity in alpha-1 antitrypsin deficiency: disease risk and treatment implications.

Authors: Hersh CP Teckman JH Strnad P et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Apr 08; Vol. 21 (1). Date of Electronic Publication: 2026 Apr 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Seroprevalence of Common Viruses in Early Infancy in North Indian Children with Biliary Atresia.

Authors: Ram, Anil Kumar Kanojia, Ravi Prakash Menon, Prema et al.

Source: Journal of Indian Association of Pediatric Surgeons. Jan/Feb2026, Vol. 31 Issue 1, p77-86. 10p.

NIA Caenorhabditis Intervention Testing Program: identification of robust and reproducible pharmacological interventions that promote longevity across experimentally accessible, genetically diverse populations.

Authors: Driscoll M Sedore CA Onken B et al.

Source: GeroScience [Geroscience] 2025 Jun; Vol. 47 (3), pp. 2791-2816. Date of Electronic Publication: 2025 Apr 03.

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

Journal Info: Publisher: Springer International Publishing Country of Publication: Switzerland NLM ID: 101686284 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2509-2723 (Electronic) Linking ISSN: 25092723 NLM ISO Abbreviation: Geroscience Subsets: MEDLINE

A deep phenotyping study in mouse and iPSC models to understand the role of oligodendroglia in optic neuropathy in Wolfram syndrome.

Authors: Ahuja, K. Vandenabeele, M. Nami, F. et al.

Source: Acta Neuropathologica Communications. 8/28/2024, Vol. 12 Issue 1, p1-23. 23p.

Deficient chaperone-mediated autophagy drives multiorgan fibrogenesis via SMAD2/4 stabilization to sustain TGFβ-SMAD signaling.

Authors: Jin JY Song YX Lu JB et al.

Source: Acta pharmacologica Sinica [Acta Pharmacol Sin] 2026 Apr 30. Date of Electronic Publication: 2026 Apr 30.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 100956087 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1745-7254 (Electronic) Linking ISSN: 16714083 NLM ISO Abbreviation: Acta Pharmacol Sin Subsets: MEDLINE

Beyond the mouse: 3R-guided alternative animal models transforming cancer research.

Authors: Faehling T Reiff T Schumacher B et al.

Source: Molecular cancer [Mol Cancer] 2026 Mar 26; Vol. 25 (1). Date of Electronic Publication: 2026 Mar 26.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101147698 Publication Model: Electronic Cited Medium: Internet ISSN: 1476-4598 (Electronic) Linking ISSN: 14764598 NLM ISO Abbreviation: Mol Cancer Subsets: MEDLINE

Broadening Horizons: Exploring the Cathepsin Family as Therapeutic Targets for Alzheimer's Disease.

Authors: Liu, Xiao-Hui Liu, Xiao-Tong Wu, Yue et al.

Source: Aging & Disease. Aug2025, Vol. 16 Issue 4, p1987-2007. 21p.

Advanced screening methods for assessing motility and hatching in plant-parasitic nematodes.

Authors: Kadlecová, Alena Hendrychová, Romana Jirsa, Tomáš et al.

Source: Plant Methods. 7/20/2024, Vol. 20 Issue 1, p1-11. 11p.

SERPINC1 c.1247dupC: a novel SERPINC1 gene mutation associated with familial thrombosis results in a secretion defect and quantitative antithrombin deficiency.

Authors: Ruf, Maximilian Cunningham, Sarah Wandersee, Alexandra et al.

Source: Thrombosis Journal. 2/12/2024, Vol. 22 Issue 1, p1-11. 11p.

The polymorphic variant of SerpinB3 (SerpinB3‐PD) is associated with faster cirrhosis decompensation.

Authors: Martini, Andrea Turato, Cristian Cannito, Stefania et al.

Source: Alimentary Pharmacology & Therapeutics. Feb2024, Vol. 59 Issue 3, p380-392. 13p.

Ataxia due to vitamin E deficiency: A case report and updated review.

Authors: Thapa, Sangharsha Shah, Sangam Chand, Swati et al.

Source: Clinical Case Reports. Sep2022, Vol. 10 Issue 9, p1-5. 5p.

Temporal transcriptomic profiling identifies core regulators in cytokine-induced gut barrier disruption in differentiated Caco-2 cells.

Authors: Yoon HS Ma S Kanke M et al.

Source: Inflammation research : official journal of the European Histamine Research Society ... [et al.] [Inflamm Res] 2026 Jun 08; Vol. 75 (1). Date of Electronic Publication: 2026 Jun 08.

Publication Type: Journal Article

Journal Info: Publisher: Birkhäuser Country of Publication: Switzerland NLM ID: 9508160 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-908X (Electronic) Linking ISSN: 10233830 NLM ISO Abbreviation: Inflamm Res Subsets: MEDLINE

ER-phagy receptors: structural mechanisms in selective ER degradation and disease implications.

Authors: Yang WJ Sheng R

Source: Acta pharmacologica Sinica [Acta Pharmacol Sin] 2026 Jun; Vol. 47 (6), pp. 1385-1400. Date of Electronic Publication: 2026 Jan 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 100956087 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1745-7254 (Electronic) Linking ISSN: 16714083 NLM ISO Abbreviation: Acta Pharmacol Sin Subsets: MEDLINE

Endoplasmic reticulum and Golgi stress signaling-mediated regulation of protein secretion.

Authors: Bakambamba K Nivet M Martin S et al.

Source: Cellular & molecular biology letters [Cell Mol Biol Lett] 2026 May 07; Vol. 31 (1). Date of Electronic Publication: 2026 May 07.

Publication Type: Journal Article; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9607427 Publication Model: Electronic Cited Medium: Internet ISSN: 1689-1392 (Electronic) Linking ISSN: 14258153 NLM ISO Abbreviation: Cell Mol Biol Lett Subsets: MEDLINE

Altered polyadenylation site usage in SERPINA1 3'UTR in response to cellular stress affects A1AT protein expression.

Authors: Jiamutai, F. N. U. Hatfield, Abigail Herbert, Austin et al.

Source: Scientific Reports. 7/2/2025, Vol. 15 Issue 1, p1-14. 14p.