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http://dx.doi.org/10.3324/haematol.2013.095513 | DOI Listing |
Brain Res Bull
September 2025
Department of Neuroscience of Disease, Brain Research Institute, Niigata University, Niigata, 951-8585, Japan. Electronic address:
Mutations in the UBE3A gene are responsible for neurodevelopmental disorders (NDDs), including Angelman syndrome (AS), which is characterized by developmental delays, impaired motor coordination, and cognitive disabilities. In recent years, UBE3A mutations have also been linked to autism spectrum disorders (ASD), due to their significant role in synaptic plasticity and cognitive function. Although substantial research has utilized mammalian models, the zebrafish (Danio rerio) provides unique opportunities to investigate gene functions owing to their transparent embryos, rapid development, and suitability for large-scale genetic and behavioral studies.
View Article and Find Full Text PDFCell Chem Biol
September 2025
Department of Biological Sciences, College of Natural Science, Seoul National University, Seoul 08826, South Korea. Electronic address:
The nucleotide-binding oligomerization domain (NOD)-like receptor protein 3 (NLRP3) inflammasome detects a broad spectrum of pathogen- and damage-associated molecular patterns (PAMPs and DAMPs), initiating inflammatory responses through caspase-1 activation and interleukin (IL)-1β/IL-18 release. Dysregulated NLRP3 activation is implicated in a range of diseases, including infectious diseases, autoinflammatory disorders, metabolic disorders, and cancer, making it an attractive therapeutic target. Here, we identify ZAP-180013 as a potent and selective small-molecule inhibitor of NLRP3 through high-throughput chemical screening.
View Article and Find Full Text PDFEur J Med Chem
August 2025
Dipartimento di Scienze degli Alimenti e del Farmaco (DipALIFAR), Università degli Studi di Parma, Viale delle Scienze, 27/A, 43124, Parma, Italy. Electronic address:
Cystic fibrosis (CF) is a multifaceted disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The resulting thick mucus accumulation increases the risk of microbial infections, leading to chronic lung inflammation, progressive tissue damage, and pulmonary exacerbations (PEs). Respiratory viruses may facilitate bacterial colonization, significantly contributing to PEs.
View Article and Find Full Text PDFJCO Precis Oncol
September 2025
Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Napoli, Italy.
Purpose: Tumor comprehensive genomic profiling (CGP) may detect potential germline pathogenic/likely pathogenic (P/LP) alterations as secondary findings. We analyzed the frequency of potentially germline variants and large rearrangements (LRs) in the RATIONAL study, an Italian multicenter, observational clinical trial that collects next-generation sequencing-based tumor profiling data, and evaluated how these findings were managed by the enrolling centers.
Patients And Methods: Patients prospectively enrolled in the pathway-B of the RATIONAL study and undergoing CGP with the FoundationOne CDx assays were included in the analysis.
Clin Nucl Med
September 2025
Department of Nuclear Medicine & PET/CT, Mahajan Imaging & Labs.
SCN2A gene mutations, which affect the function of the voltage-gated sodium channel NaV1.2, are associated with a spectrum of neurological disorders, including epileptic encephalopathies and autism spectrum disorders. Advanced imaging modalities such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have been instrumental in elucidating the neuroanatomic and functional alterations associated with these mutations.
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