ReviewJournal of inherited metabolic disease2001
Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.
Review in Journal of inherited metabolic disease, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 162 citations in OpenAlex.
- Sphingolipids in Gaucher disease: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat.Skeletal radiology · 2014Trial
- Gaucher disease: the hematologist's perspective of a multisystemic disorder.Annals of hematology · 2026Review
- Construction of a comprehensive protein-protein interaction network to identify key genes associated with osteoarthritis.Medicine · 2025Article
- Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.Journal of inherited metabolic disease · 2025Review
- Targeting Glucosylceramide Synthase: Innovative Drug Repurposing Strategies for Lysosomal Diseases.International journal of molecular sciences · 2025Article
- Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report.Frontiers in pediatrics · 2025Article
- Non-neuronopathic Gaucher disease (Type I) in an elderly female: a case report.Annals of medicine and surgery (2012) · 2024Article
- Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.Biomedicines · 2023Article
- Gaucher disease protects against tuberculosis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Glucosylsphingosine (Lyso-Gb1) as a reliable biomarker in Gaucher disease: a narrative review.Orphanet journal of rare diseases · 2023Review
- Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.Journal of clinical medicine · 2022Review
- Natural history and management of liver dysfunction in lysosomal storage disorders.World journal of hepatology · 2022Review
- Serum Phospholipid Profile Changes in Gaucher Disease and Parkinson's Disease.International journal of molecular sciences · 2022Article
- GBA1 and The Immune System: A Potential Role in Parkinson's Disease?Journal of Parkinson's disease · 2022Review
- Physiological impact of the environment on the welfare of transgenic goats raised in a tropical climate.International journal of biometeorology · 2021Article
- In-depth phenotyping for clinical stratification of Gaucher disease.Orphanet journal of rare diseases · 2021Article
- Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.Orphanet journal of rare diseases · 2020Article
- YKL-39 as a Potential New Target for Anti-Angiogenic Therapy in Cancer.Frontiers in immunology · 2019Review
- Lysosomal storage diseases.Nature reviews. Disease primers · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease is a typical lysosomal storage disease, resulting from an inborn deficiency of glucocerebrosidase. This leads to the accumulation of glycolipids in macrophages, particularly those in the liver, bone marrow, spleen and lung. In addition, disease of the nervous system can arise as a result of the accumulation of endogenous glycosphingolipid metabolites in brain tissue. About 150 mutations of the glucocerebrosidase gene have been identified in patients with Gaucher disease, some of which are predictive of phenotype. However, even patients and siblings with the same mutation, including monozygotic twins, may exhibit marked variability in disease expression and severity, illustrating our lack of understanding of the phenotype-genotype relationship in the sphingolipidoses. Massive organomegaly, particularly of the spleen, is a frequent feature of the disease. Although the liver and spleen may increase greatly in size, the amount of pathological lipid stored in the affected macrophages (Gaucher cells) accounts for less than 2% of the additional tissue mass. It is therefore clear that an inflammatory response occurs in affected individuals and that the clinical phenotype is due to an effect of macrophage storage beyond the physical presence of the Gaucher cells. Factors released by Gaucher cells, including pro-inflammatory cytokines and perhaps cathepsins, provide a mechanistic link between lysosomal storage and the diverse clinical manifestations of Gaucher disease. Emerging proteomic technology and gene expression profiling should not only improve our understanding of pathogenesis but also offer the prospect of identifying novel biomarkers that can be used as surrogate measures of disease activity and responses to treatment.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.