The protein Merlin is involved in the regulation of cell proliferation and differentiation in the eyes and wings of Drosophila and is a homolog of the human protein encoded by the Neurofibromatosis 2 (NF2) gene whose mutations cause auricular nerve tumors. Recent studies show that Merlin and Expanded cooperatively regulate the recycling of membrane receptors, such as the epidermal growth factor receptor (EGFR). By performing a search for potential genetic interactions between Merlin (Mer) and the genes important for vesicular trafficking, we found that ectopic expression in the wing pouch of the clathrin adapter protein Lap involved in clathrin-mediated receptor endocytosis resulted in the formation of extra vein materials. On the one hand, coexpression of wild-type Merlin and lap in the wing pouch restored normal venation, while overexpression of a dominant-negative mutant Mer(DBB) together with lap enhanced ectopic vein formation. Using various constructs with Merlin truncated copies, we showed the C-terminal portion of the Merlin protein to be responsible for the Merlin-lap genetic interaction. Furthermore, we showed that the Merlin and Lap proteins colocalized at the cortex of the wing imaginal disc cells.
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Cancers (Basel)
December 2024
Department of Neurosurgery, Baylor College of Medicine, Houston, TX 77030, USA.
: With the rise in prevalence of diagnostic genetic techniques like RNA sequencing and whole exome sequencing (WES), as well as biological treatment regiments for cancer therapy, several genes have been implicated in carcinogenesis. This review aims to update our understanding of the Neurofibromatosis 2 (NF2) gene and its role in the pathogenesis of various cancers. : A comprehensive search of five online databases yielded 43 studies that highlighted the effect of sporadic NF2 mutations on several cancers, including sporadic meningioma, ependymoma, schwannoma, mesothelioma, breast cancer, hepatocellular carcinoma, prostate cancer, glioblastoma, thyroid cancer, and melanoma.
View Article and Find Full Text PDFEnviron Pollut
January 2025
Università degli Studi di Bari Aldo Moro, Dipartimento Interateneo di Fisica M. Merlin, Bari, 70125, Italy; Istituto Nazionale di Fisica Nucleare (INFN), Sezione di Bari, Bari, 70125, Italy.
Antimicrobial resistance refers to the ability of pathogens to develop resistance to drugs designed to eliminate them, making the infections they cause more difficult to treat and increasing the likelihood of disease diffusion and mortality. As such, antimicrobial resistance is considered as one of the most significant and universal challenges to both health and society, as well as the environment. In our research, we employ the explainable artificial intelligence paradigm to identify the factors that most affect the onset of antimicrobial resistance in diversified territorial contexts, which can vary widely from each other in terms of climatic, economic and social conditions.
View Article and Find Full Text PDFJ Med Chem
January 2025
Centro de Investigaciones Biológicas "Margarita Salas"-CSIC, Ramiro de Maeztu 9, 28040 Madrid, Spain.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease without effective treatment. The progressive motoneuron death in ALS is associated with alterations in lipid metabolism. As its regulation occurs in mitochondria-associated endoplasmic reticulum (ER) membranes (MAMs), modulation of mitochondria-ER contacts (MERCs) is emerging as a crucial factor in MAM formation and lipid metabolism control.
View Article and Find Full Text PDFNeurosurgery
January 2025
Department of Neurological Surgery, University of California, San Francisco, San Francisco, California, USA.
Background And Objectives: Extent of resection (EOR) is prognostic for meningioma outcomes. DNA methylation profiling can shed light on biological drivers and therapeutic vulnerabilities. The goal of this study was to re-evaluate the impact of EOR on clinical outcomes across meningioma DNA methylation groups.
View Article and Find Full Text PDFValue Health
October 2024
Health Intervention and Technology Assessment Program (HITAP), Ministry of Public Health, Nonthaburi, Thailand; Saw Swee Hock School of Public Health, National University of Singapore, Singapore.
Objectives: Health technology assessment (HTA) guidelines are intended to support successful implementation of HTA by enhancing consistency and transparency in concepts, methods, process, and use, thereby enhancing the legitimacy of the decision-making process. This report lays out good practices and practical recommendations for developing or updating HTA guidelines to ensure successful implementation.
Methods: The task force was established in 2022 and comprised experts and academics from various geographical regions, each with substantial experience in developing HTA guidelines for national health policymaking.
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