Glucocerebroside in Gaucher disease is stored in large Gaucher cells of monocyte-macrophage origin. Our aim was to achieve storage of this substrate in monocytes in vitro, in order to mimick the Gaucher cells in vivo. The method described using glucocerebroside-albumin complex, enabled such uptake and storage. The monocytes used changed to large hellical cells. Glucocerebrosidase activity was not affected by the accumulation and storage of the substrate. Although morphological evidence for the accumulation of glucocerebroside within the lysosomes has not yet been obtained, we suggest that these monocytes might represent an in vitro model for the study of Gaucher cells.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Unifying biology of neurodegeneration in lysosomal storage diseases.
J Inherit Metab Dis
January 2025
Department of Life Sciences, Manchester Metropolitan University, Manchester, UK.
There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.
View Article and Find Full Text PDFA Case of Hodgkin Lymphoma in a Gaucher Disease Patient: Distinguishing Gaucher and Pseudo-Gaucher Cells.
Am J Hematol
January 2025
Dipartimento di Scienze Cliniche e di Comunità, Dipartimento di Eccellenza 2023-2027, University of Milan, Milan, Italy.
Developing Allosteric Chaperones for -Associated Disorders-An Integrated Computational and Experimental Approach.
Int J Mol Sci
December 2024
Gain Therapeutics Sucursal en España, Parc Científic de Barcelona, 08028 Barcelona, Spain.
Mutations in the gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are associated with Gaucher disease and increased risk of Parkinson's disease. This study describes the discovery and characterization of novel allosteric pharmacological chaperones for GCase through an innovative computational approach combined with experimental validation. Utilizing virtual screening and structure-activity relationship optimization, researchers identified several compounds that significantly enhance GCase activity and stability across various cellular models, including patient-derived fibroblasts and neuronal cells harboring mutations.
View Article and Find Full Text PDFRare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Endocrinology and Metabolic Diseases, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Background: Gaucheromas, pseudotumors composed of Gaucher cells, are rare complications of Gaucher's Disease (GD). They are usually seen in patients receiving enzyme replacement. Surgery is generally not recommended for these benign masses in treatment management.
View Article and Find Full Text PDFCurrent opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects.
Cytotechnology
February 2025
Department of Pharmacology, School of Health Sciences, Central University of Punjab, Bathinda, 151001 India.
Gaucher's disease (GD) is a rare autosomal recessive genetic disorder caused by mutations in the gene. Mutations in the gene lead to the deficiency of glucocerebrosidase, an enzyme that helps in the breakdown of glucosylceramide (GlcCer) into ceramide and glucose. The lack of the enzyme causes GlcCer accumulation in macrophages, resulting in various phenotypic characteristics of GD.
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!