Protein aggregation is a hallmark of several neurodegenerative diseases and is associated with impaired protein homeostasis. This imbalance is caused by the loss of the protein's native conformation, which ultimately results in its aggregation or abnormal localization within the cell. Using a model of polyglutamine diseases, we describe in detail the filter retardation assay, a method that captures protein aggregates in a cellulose acetate membrane and allows its detection and quantification by immunoblotting.
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http://dx.doi.org/10.21769/BioProtoc.3042 | DOI Listing |
Psychiatr Genet
February 2025
Department of Obstetrics.
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant genetic disease characterized by growth retardation, psychomotor retardation, and distinctive facial features. It is primarily caused by mutations in CREBBP or EP300. In this study, we aimed to describe the clinical manifestations and genetic analyses of two cases with RSTS.
View Article and Find Full Text PDFACS Appl Mater Interfaces
December 2024
State Key Laboratory of Molecular Vaccinology and Molecular Diagnosis, School of Public Health, Xiamen University, Xiamen 361102, China.
Drinking water is an essential daily intake to hydrate the body. It is conceivable that water, when endowed with antioxidant properties, will be the most natural radical terminator surpassing conventional pill-based or food-derived antioxidants. However, current end-of-pipe purification of municipal water generally depletes minerals pivotal for antioxidant potency.
View Article and Find Full Text PDFPart Fibre Toxicol
December 2024
School of Materials Science and Engineering, Nanyang Technological University, Singapore, Singapore.
Background: Inorganic ultraviolet filters such as titanium dioxide nanoparticles are frequently used in sunscreens. Numerous toxicological studies in vitro and in vivo have been conducted using pristine standard reference nanomaterials of these inorganic filters. While convenient, this approach is not realistic because the complex environment of sunscreen formulations could change the physicochemical properties of the nanoparticles and lead to vastly different toxicological outcomes.
View Article and Find Full Text PDFHum Gene Ther
December 2024
Department Mental Retardation & Birth Defect Research, National Center of Neurology & Psychiatry, National Institute of Neuroscience, Tokyo, Japan.
Systemic delivery of adeno-associated virus (AAV) vectors targeting the central nervous system has the potential to solve many neurodevelopmental disorders, yet it is made difficult by the filtering effect of the blood-brain barrier and systemic complications. To overcome this limitation, we attempted to inject a Venus-expressing, oligodendrocyte-selective AAV9 viral vector in the ventricles together with lipid microbubbles and subjected them to focused ultrasound (FUS); the resulting mechanical stimulation on the brain ventricles is able to open small, temporary gaps from which vector particles can leak and spread. Our findings indicate that FUS can increase viral vector diffusion across both the anteroposterior and left-right axes without influencing cell tropism; significant effects were found with 60 and 90 s exposure time, but no effects were observed with longer intervals.
View Article and Find Full Text PDFJ Environ Radioact
December 2024
Institute of geology of ore deposits, petrography, mineralogy, and geochemistry, Russian Academy of sciences, Staromonetny 35, 119017, Moscow, Russia.
A necessary condition for the sustainable development of nuclear power is the safe disposal of vitrified high-level radioactive waste from the processing of spent nuclear fuel in underground repositories. Their safety depends on the rate of radionuclide transport by groundwater from the repository to the biosphere. A significant fraction of the radionuclides is carried by groundwater in colloidal form.
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