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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8940713 | PMC |
| http://dx.doi.org/10.1002/mds.28935 | DOI Listing |
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Investigation of the Oxidative Process by Measuring Total Antioxidant Capacity and Total Oxidant Capacity in Patients with Gaucher Disease.
Klin Padiatr
July 2025
Biochemistry, Ankara City Hospital, Cankaya, Turkey.
Gaucher disease is caused by mutations in the GBA1 gene, which encodes the β-glucocerebrosidase enzyme. The deficiency of this enzyme result in glucosylceramide and glucosylsphingosine accumulation, within lysosomes and resulted triggering inflammation and accumulating substrates affect multiple organ systems, causing progressive cellular damage. Evidence has shown that the accumulation of glucosylceramide in macrophages is associated with inflammatory processes, reactive oxygen species production and an imbalance between the pro-oxidants and the antioxidant reserve, resulting in oxidative stress and inflammation.
View Article and Find Full Text PDFEliglustat and cardiac comorbidities in Gaucher disease: a pharmacogenomic approach to safety and efficacy.
Front Med (Lausanne)
March 2025
Department of Internal Medicine, Yale School of Medicine, New Haven, CT, United States.
Introduction: Gaucher disease (GD), a lysosomal storage disorder, results from the accumulation of glycosphingolipids due to deficient lysosomal glucocerebrosidase activity. This pathological accumulation triggers immune activation, which paradoxically induces UDPglucose ceramide glucosyltransferase (UGCG), further exacerbating the metabolic defect. Eliglustat, a highly specific inhibitor of UGCG, functions as a substrate reduction therapy (SRT) and has demonstrated efficacy in reversing GD manifestations in clinical trials and real-world settings.
View Article and Find Full Text PDFChallenges in Gaucher disease: Perspectives from an expert panel.
Mol Genet Metab
May 2025
University of Miami UHealth Sylvester Cancer Center Coral Springs, 8170 Royal Palm Blvd, Coral Springs, FL 33065, USA.
This focused review concentrates on eight topics of high importance for Gaucher disease (GD) clinicians and researchers: 1) The consideration of GD as distinct types rather than a spectrum. A review of the literature clearly supports the view that there are distinct types of GD. Type 1 is characterized by the absence of primary neuronopathic involvement, while types 2 and 3 are characterized by progressive primary neuronopathic disease.
View Article and Find Full Text PDFGlucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.
Orphanet J Rare Dis
February 2023
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.
Background: Gaucher disease (GD) is a rare, inherited, autosomal recessive disorder caused by a deficiency of the lysosomal enzyme, acid β-glucosidase. Its diagnosis is achieved via measurements of acid β-glucosidase activity in either fresh peripheral blood leukocytes or dried blood spots, and confirmed by identifying characteristic mutations in the GBA1 gene. Currently, several biomarkers are available for disease monitoring.
View Article and Find Full Text PDFPlasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.
Mol Genet Metab
March 2023
Gerald Cox Rare Care Consulting, Needham, MA, USA.
In Gaucher disease type 1 (GD1), accumulation of the lipid substrates glucosylceramide and glucosylsphingosine (lyso-GL-1 or lyso-Gb1), primarily in the spleen, liver, and bone marrow, leads to progressive hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. Plasma glucosylceramide elevations are modest, variable, and normalize within weeks of starting treatment before clinical changes are evident, and therefore, have limited value for monitoring treatment responses. Serum chitotriosidase activity, a widely used GD biomarker, is also elevated in many other conditions but is not measurable in 5-10% of individuals due to a common CHIT1 null variant.
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