Results 91 to 100 of about 58,467 (240)

α‐Synuclein Forms Distinct Micelle‐Like Assemblies at Low Ionic Strengths

Advanced Science, EarlyView.
At high ionic strength, α‐synuclein forms diverse assemblies, including oligomers, fibrils, and condensates. Here, we show that at low ionic strength, α‐synuclein adopts a distinct, low‐abundance assembly state. These assemblies maintain a constant size above a critical concentration and do not coalesce, suggesting a micelle‐like organization ...
Sophie Hertel, Soumik Ray, Federica Saraceno, Giacomo Nisini, Georgia Nasi, Thomas Oliver Mason, Antonin Kunka, Effrosyni Agrimaki, Dannie Juul Olesen, Francesco Simone Ruggeri, Alexander K. Buell   +10 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

Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

Journal of Lipid Research, 2000
: Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD).
Margaret E. Brousseau, Ernst J. Schaefer, Josee Dupuis, Brenda Eustace, Paul Van Eerdewegh, Allison L. Goldkamp, Lisa M. Thurston, Michael G. FitzGerald, Diane Yasek-McKenna, Gilmore O'Neill, Gretchen P. Eberhart, Barbara Weiffenbach, Jose M. Ordovas, Mason W. Freeman, Robert H. Brown, Jr., Jessie Z. Gu   +15 more
doaj   +1 more source

The liver‐brain axis: A multidimensional regulatory network implicated in Alzheimer's disease pathogenesis and clinical implications

Animal Models and Experimental Medicine, EarlyView.
Schematic diagram of the core pathways of the liver‐brain axis in regulating AD. The liver regulates cerebral Aβ deposition, tau phosphorylation, and neuroinflammation through pathways such as metabolic detoxification (urea cycle, ketone body metabolism, glutathione antioxidant system), molecular secretion (APOE, CRP, FGF21, IGF‐1), and Aβ clearance ...
Ning Zhang, Wei Chen, Meng Wang
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk

Annals of Neurology, EarlyView.
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Andrés Peña‐Tauber, Ricardo Hernández Arriaza, Dylan Reil, Manon Muntaner, Junyoung Park, Benjamin Grenier‐Boley, Marc Hulsman, Philippe Amouyel, Céline Bellenguez, Camille Charbonnier, Jean‐François Deleuze, Orio Dols‐Icardo, John Hardy, Henne Holstege, Gaël Nicolas, Simon Mead, Michael Wagner, Alfredo Ramirez, Rebecca Sims, John van Swieten, Julie Willams, Jean‐Charles Lambert, Chaitan Khosla, Yann Le Guen, Michael D Greicius   +24 more
wiley   +1 more source

Liposomal Delivery of L‐2‐Hydroxyglutarate for Targeting Epigenetic Dysregulation in Osteoarthritis

Advanced NanoBiomed Research, EarlyView.
Osteoarthritis involves cartilage degeneration, inflammation, and epigenetic dysregulation. A liposomal formulation of the TET1 inhibitor L‐2‐hydroxyglutarate to overcome rapid joint clearance was developed. The formulation showed good physicochemical properties, reduced inflammatory and catabolic gene expression in chondrocytes, and alleviated ...
Denise Murgia, Akshay Pandey, Raffaele Spanò, Bianca Martins Estevão, Roberto Palomba, Greta Avancini, Tamaghna Gupta, Ana Maria Lopez Estevez, Stuart B. Goodman, Nidhi Bhutani, Paolo Decuzzi   +10 more
wiley   +1 more source

ABCC8-associated with maturity-onset diabetes in a young woman: clinical features and genetic analysis

Сибирский научный медицинский журнал
ABCC8-MODY is caused by variants in the ATP-binding cassette transporter subfamily C member 8 (ABCC8) gene, which encodes sulfonylurea receptor 1 (SUR1), a subunit of the ATP-sensitive potassium channel (K-ATP) found in β-cell membranes.
O. D. Rymar, S. V. Mustafina, A. K. Ovsyannikova, E. V. Shakhtshneider, D. E. Ivanoshchuk, E. D. Ruzaeva, Yu. A. Dolinskaya, V. A. Stoyakina, A. A. Radionova   +8 more
doaj   +1 more source

Rewriting Tumor Immunity With Bacterial Membrane Vesicles: A Versatile and Potent Therapeutic Strategy

Advanced NanoBiomed Research, EarlyView.
Bacterial membrane vesicles (BMVs) emerge as promising platforms for cancer immunotherapy owing to their intrinsic adjuvant properties and tunable cargo delivery capabilities. Their ability to modulate the tumor microenvironment, enhance antitumor immune responses, and support personalized therapeutic strategies highlights their growing potential as ...
Md Sifat Rahi, Md Mijanur Rahman, Asma Talukder, Urooj Yousaf Virk, Jennifer C. Wilson, Nigel McMillan, Ming Q. Wei   +6 more
wiley   +1 more source

ATP-binding cassette transporter-1 (ABCA1) [PDF]

Science-Business eXchange, 2008
openaire   +1 more source