Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of a-galactosidase A (also known as ceramide trihexosidase) and resultant accumulation of globotriaosylceramide (Gb3) and related glycophospholipids. The disease affects nearly all major organ systems, with the primary sites damaged by Gb3 including renal glomeruli, myocardium, neurons of the dorsal ganglion and autonomic nervous system, and vascular endothelial and smooth muscle. Progressive deposition in these organ systems leads to renal and heart failure; debilitating pain as a result of nervous system involvement also occurs.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229998 | PMC |
| http://dx.doi.org/10.1155/2014/172197 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Patterns of belatacept use and risk of post-transplant lymphoproliferative disorder in US kidney transplant recipients: An analysis of the Organ Procurement and Transplantation Network database.
PLoS One
January 2025
Worldwide Health Economics and Outcomes Research, Bristol Myers Squibb, Princeton, NJ, United States of America.
Background: Belatacept is approved for the prophylaxis of organ rejection in Epstein-Barr virus (EBV)-seropositive kidney transplant recipients and is associated with a risk of post-transplant lymphoproliferative disorder (PTLD).
Methods: Data from the Organ Procurement and Transplantation Network were used to examine patterns of belatacept use, describe patient characteristics, and estimate risk of PTLD in EBV-seropositive, kidney-only transplant recipients receiving belatacept- or calcineurin inhibitor (CNI)-based immunosuppression as part of US Food and Drug Administration-mandated safety monitoring.
Results: During the study period (June 15, 2011-June 14, 2016), 94.
A Susceptible Cell-Selective Delivery (SCSD) of mRNA-Encoded Cas13d Against Influenza Infection.
Adv Sci (Weinh)
January 2025
National Key Laboratory of Veterinary Public Health and Safety, College of Veterinary Medicine, China Agricultural University, Beijing, 100193, China.
To bolster the capacity for managing potential infectious diseases in the future, it is critical to develop specific antiviral drugs that can be rapidly designed and delivered precisely. Herein, a CRISPR/Cas13d system for broad-spectrum targeting of influenza A virus (IAV) from human, avian, and swine sources is designed, incorporating Cas13d mRNA and a tandem CRISPR RNA (crRNA) specific for the highly conserved regions of viral polymerase acidic (PA), nucleoprotein (NP), and matrix (M) gene segments, respectively. Given that the virus targets cells with specific receptors but is not limited to a single organ, a Susceptible Cell Selective Delivery (SCSD) system is developed by modifying a lipid nanoparticle with a peptide mimicking the function of the hemagglutinin of influenza virus to target sialic acid receptors.
View Article and Find Full Text PDFMulti-material Electrohydrodynamic Printing of Bioelectronics with Sub-Microscale 3D Gold Pillars for In Vitro Extra- and Intra-Cellular Electrophysiological Recordings.
Adv Sci (Weinh)
January 2025
State Key Laboratory for Manufacturing Systems Engineering, Xi'an Jiaotong University, Xi'an, 710049, P. R. China.
Micro/nanoscale 3D bioelectrodes gain increasing interest for electrophysiological recording of electroactive cells. Although 3D printing has shown promise to flexibly fabricate 3D bioelectronics compared with conventional microfabrication, relatively-low resolution limits the printed bioelectrode for high-quality signal monitoring. Here, a novel multi-material electrohydrodynamic printing (EHDP) strategy is proposed to fabricate bioelectronics with sub-microscale 3D gold pillars for in vitro electrophysiological recordings.
View Article and Find Full Text PDFProtocol for applying Tumor Treating Fields in mouse models of cancer using the inovivo system.
STAR Protoc
January 2025
Department of Medicine, Division of Hematology, Oncology, and Transplantation, University of Minnesota Medical School, Minneapolis, MN, USA; Masonic Cancer Center, University of Minnesota Medical School, Minneapolis, MN, USA. Electronic address:
Tumor Treating Fields (TTFields) are electric fields clinically approved for cancer treatment, delivered via arrays attached to the patient's skin. Here, we present a protocol for applying TTFields to torso orthotopic and subcutaneous mouse tumor models using the inovivo system. We guide users on proper system component connections, study protocol design, mouse fur depilation, array application, and treatment condition adjustment and monitoring.
View Article and Find Full Text PDFMonitoring the trends of carbon monoxide and tropospheric formaldehyde in Edo State using Sentinel-5P and Google Earth Engine from 2018 to 2023.
Environ Monit Assess
January 2025
Laboratory for Ecotoxicology and Environmental Forensics, University of Benin, PMB 1154, Benin City, Nigeria.
This research was carried out to assess the concentrations of carbon monoxide (CO) and formaldehyde (HCHO) in Edo State, Southern Nigeria, using remote sensing data. A secondary data collection method was used for the assessment, and the levels of CO and HCHO were extracted annually from Google Earth Engine using information from Sentinel-5-P satellite data (COPERNISCUS/S5P/NRTI/L3_) and processed using ArcMap, Google Earth Engine, and Microsoft Excel to determine the levels of CO and HCHO in the study area from 2018 to 2023. The geometry of the study location is highlighted, saved and run, and a raster imagery file of the study area is generated after the task has been completed with a 'projection and extent' in the Geographic Tagged Image File Format (.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!