Results 31 to 40 of about 7,315 (135)

Lysosomal cholesterol export reconstituted from fragments of Niemann-Pick C1

eLife, 2018
Niemann-Pick C1 (NPC1) is a polytopic membrane protein with 13 transmembrane helices that exports LDL-derived cholesterol from lysosomes by carrying it through the 80 Å glycocalyx and the 40 Å lipid bilayer. Transport begins when cholesterol binds to the
Michael Nguyen Trinh, Michael S Brown, Joachim Seemann, Joseph L Goldstein, Feiran Lu   +4 more
doaj   +1 more source

USP5 Stabilizes TGFBR1 to Drive Vascular Smooth Muscle Cell Senescence and Atherosclerosis

Advanced Science, EarlyView.
This study reveals that USP5 drives vascular smooth muscle cell senescence and atherosclerosis by stabilizing TGFBR1, suppressing IDH2, and promoting glycolytic reprogramming, identifying the USP5‐TGFBR1‐IDH2 axis as a potential therapeutic target. ABSTRACT Vascular smooth muscle cell (VSMC) senescence contributes importantly to atherosclerotic plaque ...
Xinhai Cui, Yuanlong Hu, Lin Lin, Lei Zhang, Chao Li, Yunlun Li   +5 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

Journal of Lipid Research, 2017
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes.
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield   +7 more
doaj   +1 more source

Magnetic Supraparticles as Identifiers in Single‐Layer Lithium‐Ion Battery Pouch Cells

ChemSusChem, Volume 18, Issue 6, March 15, 2025.
As an alternative to externally applied optical identifiers, magnetic supraparticles (SPs) can be used for contactless identification of lithium‐ion battery pouch cells via magnetic particle spectroscopy. This study validated the integration and detection of magnetic markers in three model scenarios.
Sara Li Deuso, Simon Ziegler, Daniel Weber, Felix Breuer, Daniel Haddad, Stephan Müssig, Andreas Flegler, Guinevere A. Giffin, Karl Mandel   +8 more
wiley   +1 more source

PKC activation in Niemann pick C1 cells restores subcellular cholesterol transport. [PDF]

PLoS ONE, 2013
Activation of protein kinase C (PKC) has previously been shown to ameliorate the cholesterol transport defect in Niemann Pick Type C1 (NPC1) cells, presumably by increasing the soluble levels of one of its substrates, vimentin.
Farshad Tamari, Fannie W Chen, Chunlei Li, Jagrutiben Chaudhari, Yiannis A Ioannou   +4 more
doaj   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

Cysteine Peptidases in Antitumor Immunity: Unraveling Antigen‐Presenting Cell Regulation and Therapeutic Potential

iMetaMed, EarlyView.
This review systematically summarizes the central role of cysteine peptidases in modulating antigen‐presenting cell (APC) function and antitumor immune responses, highlighting their critical significance in overcoming tumor immune evasion. Current research has established that cysteine peptidase subtypes, including cathepsins B, S, L, and X, exert ...
Yimao Wu, Xiaoyan Chen, Zichang Chen, Yalun Liang, Gokhan Zengin, Qian Zhang, Wenlong Sun, Meng‐Yao Li   +7 more
wiley   +1 more source

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1

Journal of Lipid Research
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol.
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang   +10 more
doaj   +1 more source

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background:  Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination.
David Smith, Nada Al Eisa, Isabelle Williams, Wolfram Haller, Sumeet Pandey, Alicia Chan, Hien Quoc Huynh, Holm H. Uhlig, Ruth Bettels, Gesche Düeker, Chinenye R. Dike, Laurent Peyrin-Biroulet, Thorsten Marquardt, Catherine DeGeeter, Frances M. Platt, Nick Platt, Tobias Schwerd   +16 more
doaj   +1 more source