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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
Nutrients
December 2024
Pediatric Hepatology and Liver Transplant Unit, Department of Pediatrics, ERN Rare Liver ERN TransplantChild, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, 08193 Barcelona, Spain.
Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications.
View Article and Find Full Text PDFA bifunctional naphthalimide-based fluorescent probe for imaging lysosomal peroxynitrite and viscosity in living cells and zebrafish.
Bioorg Chem
January 2025
School of Chemistry and Chemical Engineering, Anhui University of Technology, Ma'anshan 243032, PR China. Electronic address:
Peroxynitrite (ONOO) and viscosity are critical indicators of lysosome functionality, intimately linked to numerous diseases' pathophysiological processes. Hence, creating reliable analytical techniques to observe fluctuations in lysosomal ONOO and viscosity is highly important. This study presents the development of a novel naphthalimide-based fluorescent probe, Nap-Cy, specifically designed to target lysosomes and simultaneously detect both ONOO and viscosity.
View Article and Find Full Text PDFLongitudinal imaging of therapeutic enzyme expression after gene therapy for Fabry disease using positron emission tomography and the radiotracer [F]AGAL.
Mol Ther
November 2024
Takeda Pharmaceutical Company Limited, Cambridge, MA 02142, USA. Electronic address:
Longitudinal, non-invasive, in vivo monitoring of therapeutic gene expression is an unmet need for gene therapy (GT). Positron emission tomography (PET) radiotracers designed to bind to therapeutic proteins may provide a sensitive imaging platform to guide treatment response and dose optimization in GT. Herein, we evaluate a novel PET tracer ([F]AGAL) for targeting α-galactosidase A (GLA), an enzyme deficient in Fabry disease.
View Article and Find Full Text PDFActin dynamics switches two distinct modes of endosomal fusion in yolk sac visceral endoderm cells.
Elife
October 2024
Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan.
Article Synopsis
- Researchers studied how membrane deformation affects vesicle fusion by observing late endosomes and lysosomes in mouse yolk sac cells with large endocytic vesicles, revealing two fusion modes: homotypic (fast fusion of similar vesicles) and heterotypic (slow fusion with lysosomes).
- Mathematical models indicated that vesicle size significantly influences fusion types, while forces from membrane fluctuations can mitigate size effects on fusion.
- The study found that dynamic actin remodeling is crucial for rapid homotypic fusion, with cofilin playing an essential role in regulating actin activity during the fusion process, highlighting the importance of actin in efficient membrane trafficking.
Effects of long-term dehydration and quick rehydration on the camel kidney: pathological changes and modulation of the expression of solute carrier proteins and aquaporins.
BMC Vet Res
August 2024
Department of Pharmacology, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
Background: Recurrent dehydration causes chronic kidney disease in humans and animal models. The dromedary camel kidney has remarkable capacity to preserve water and solute during long-term dehydration. In this study, we investigated the effects of dehydration and subsequent rehydration in the camel's kidney histology/ultrastructure and changes in aquaporin/solute carrier proteins along with gene expression.
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