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Pathogenic variants of GDAP1 cause Charcot-Marie-Tooth disease (CMT), an inherited neuropathy characterized by axonal degeneration. GDAP1, an atypical glutathione S-transferase, localizes to the outer mitochondrial membrane (OMM), regulating this organelle's dynamics, transport, and membrane contact sites (MCSs). It has been proposed that GDAP1 functions as a cellular redox sensor.
View Article and Find Full Text PDFNeuropathology, pathomechanism, and transmission in zoonotic Borna disease virus 1 infection: a systematic review.
Lancet Infect Dis
January 2025
Department of Neuropathology, Medical Faculty, University of Augsburg, Augsburg, Germany; Pathology, Medical Faculty, University of Augsburg, Augsburg, Germany. Electronic address:
Borna disease, which is a severe encephalitis that primarily affects horses and sheep, has been recognised for over two centuries. Borna disease virus 1 (BoDV-1) has been identified as a cause of a predominantly fatal encephalitis in humans. Little scientific data exist regarding the virus' transmission, entry portal, and excretion routes.
View Article and Find Full Text PDFEvaluating and Gene Polymorphisms and Serum Protein Levels and Their Association with Age-Related Macular Degeneration and Its Treatment Efficiency.
Medicina (Kaunas)
December 2024
Ophthalmology Laboratory, Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2, LT-50161 Kaunas, Lithuania.
: Age-related macular degeneration (AMD) is the leading cause of blindness, affecting millions worldwide. Its pathogenesis involves the death of the retinal pigment epithelium (RPE), followed by photoreceptor degeneration. Although AMD is multifactorial, various genetic markers are strongly associated with the disease and may serve as biomarkers for evaluating treatment efficacy.
View Article and Find Full Text PDFThe Intricate Relationship Between Pulmonary Fibrosis and Thrombotic Pathology: A Narrative Review.
Cells
December 2024
Centro Dipartimentale di Biologia Cellulare Cardiorespiratoria, Dipartimento di Patologia Chirurgica, Medica, Molecolare e dell'Area Critica, Università degli Studi di Pisa, 56124 Pisa, Italy.
Idiopathic pulmonary fibrosis (IPF) is associated with a significantly increased risk of thrombotic events and mortality. This review explores the complex bidirectional relationship between pulmonary fibrosis and thrombosis, discussing epidemiological evidence, pathogenetic mechanisms, and therapeutic implications, with a particular focus on the emerging role of extracellular vesicles (EVs) as crucial mediators linking fibrosis and coagulation. Coagulation factors directly promote fibrosis, while fibrosis itself activates thrombotic pathways.
View Article and Find Full Text PDFPhenotyping atherosclerotic plaque and perivascular adipose tissue: signalling pathways and clinical biomarkers in atherosclerosis.
Nat Rev Cardiol
January 2025
Department of Biomedical Sciences, and Department of Medicine, Cedars-Sinai Medical Center, Biomedical Imaging Research Institute, Los Angeles, CA, USA.
Computed tomography coronary angiography provides a non-invasive evaluation of coronary artery disease that includes phenotyping of atherosclerotic plaques and the surrounding perivascular adipose tissue (PVAT). Image analysis techniques have been developed to quantify atherosclerotic plaque burden and morphology as well as the associated PVAT attenuation, and emerging radiomic approaches can add further contextual information. PVAT attenuation might provide a novel measure of vascular health that could be indicative of the pathogenetic processes implicated in atherosclerosis such as inflammation, fibrosis or increased vascularity.
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