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The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross-sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ASMD ( = 19) and GD1 ( = 85). Spleen volume, liver volume, and bone marrow fat fraction did not significantly differ between the two disease groups ( >0.
View Article and Find Full Text PDFPeptidoglycan-Chi3l1 interaction shapes gut microbiota in intestinal mucus layer.
Elife
October 2024
Southwest United Graduate School, Yunnan Key Laboratory of Cell Metabolism and Diseases, State Key Laboratory of Conservation and Utilization of Bio-resources in Yunnan, Center for Life Sciences, School of Life Sciences, Yunnan University, Kunming, China.
The balanced gut microbiota in intestinal mucus layer plays an instrumental role in the health of the host. However, the mechanisms by which the host regulates microbial communities in the mucus layer remain largely unknown. Here, we discovered that the host regulates bacterial colonization in the gut mucus layer by producing a protein called Chitinase 3-like protein 1 (Chi3l1).
View Article and Find Full Text PDFNatural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.
J Inherit Metab Dis
January 2025
Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Acid sphingomyelinase deficiency (ASMD) is an ultra-rare lysosomal storage disease with a broad spectrum of manifestations ranging from severe neuropathic forms to attenuated, chronic visceral forms. Manifestations of the chronic visceral subtype are variable and encompass different degrees of hepatosplenomegaly, pulmonary disease and dyslipidemia. The aim of this study was to provide insights into the natural course of adult patients with the chronic visceral subtype.
View Article and Find Full Text PDFDeficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Int J Mol Sci
June 2024
Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Article Synopsis
- * Deficiencies in GCase activity lead to Gaucher Disease (GD) and can arise from mutations in the GCase-encoding gene, or rarely, from deficiencies in SapC or LIMP-2, which are responsible for targeting GCase to lysosomes.
- * The study reports new cases of LIMP-2 and SapC deficiencies, analyzing the effects on GCase activity and identifying distinct biochemical profiles and degradation pathways in different deficiency types compared to typical G
Fungal chitin is not an independent mediator of allergic fungal asthma severity.
Am J Physiol Lung Cell Mol Physiol
September 2024
Department of Microbiology and Immunology, School of Medicine, Tulane University, New Orleans, Louisiana, United States.
Chitin, a polysaccharide found in the fungal cell wall and the exoskeletons of house dust mites and cockroaches, has garnered attention as a potential immunoreactive allergen. Mammals have evolved to express chitin-degrading chitinases (acidic mammalian chitinase/AMCase and chitotriosidase) that may modulate immune responses to chitin. We have previously reported that mice deficient in AMCase () demonstrated better lung function during allergic fungal asthma.
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