ReviewProceedings of the National Academy of Sciences of the United States of America1993
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans.
Review in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01274208 (Enhanced HCV Nonstructural Protein 3), which is not on this map. Cited by 22 papers.
What it found
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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.
The trial behind it
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.
Enhanced HCV Nonstructural Protein 3 (NS3) -Specific T Cell Proliferation,Interferon γ (IFNγ) and Interleukin-10 (IL-10) Secreting Clones, and Peripheral Blood Natural Killers T Cells ( NKT Cells) in Patients With Type I Gaucher Disease Infected With HCV : An Advantage in Anti Hepatitis Immunity?
Who cites it
22 citing papers in PubMed, 95 citations in OpenAlex.
- CRISPR Correction of the GBA Mutation in Human-Induced Pluripotent Stem Cells Restores Normal Function to Gaucher Macrophages and Increases Their Susceptibility to Mycobacterium tuberculosis.The Journal of infectious diseases · 2023Article
- Gaucher disease protects against tuberculosis.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genetics of enzymatic dysfunctions in metabolic disorders and cancer.Frontiers in oncology · 2023Review
- Real-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2022Article
- Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism.Critical reviews in oncogenesis · 2013Review
- Generation of a Chinese hamster ovary cell line producing recombinant human glucocerebrosidase.Journal of biomedicine & biotechnology · 2012Article
- Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
- Ashkenazi Jews and breast cancer: the consequences of linking ethnic identity to genetic disease.American journal of public health · 2006Article
- Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.European journal of pediatrics · 2004Review
- Murine MHC class II locus control region drives expression of human beta-glucocerebrosidase in antigen presenting cells of transgenic mice.Gene therapy · 1999Article
- Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.The Journal of clinical investigation · 1997Article
- Radiographic findings in type 3b Gaucher disease.Pediatric radiology · 1996Article
- Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.Proceedings of the National Academy of Sciences of the United States of America · 1995Article
- Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.Molecular medicine (Cambridge, Mass.) · 1995Article
- An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.American journal of human genetics · 1995Article
- Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).The Journal of clinical investigation · 1995Article
- Glucocerebrosidase mutations in Gaucher disease.Molecular medicine (Cambridge, Mass.) · 1994Article
- Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-D-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity and the type of Gaucher disease.The Biochemical journal · 1994Article
- Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.Human genetics · 1994Article
- Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling.Journal of genetic counseling · 1994Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Gaucher disease is a glycolytic storage disease caused by a deficiency in activity of the catabolic enzyme glucocerebrosidase. Over 35 different mutations have been documented, including missense and nonsense point mutations, splicing mutations, deletions and insertions, a fusion gene, and examples of gene conversion. Gaucher disease is most common in the Ashkenazi Jewish population, in which just five of the mutations in this population account for 98% of the disease-producing alleles. Each of these mutations is found in the context of a single haplotype, a finding consistent with a single origin of each mutation. Although it is clear that these mutations provide a selective advantage in the Jewish population and thus constitute a balanced polymorphism, the nature of the advantage is unknown. Gaucher disease can be treated symptomatically, by administration of the missing enzyme, by allogeneic bone marrow transplantation, and potentially by gene transfer into hematopoietic stem cells. Increasing understanding of this disease has, as in other genetic disorders, created a host of social and ethical dilemmas regarding matters such as the cost of treatment for rare diseases and the advantages and disadvantages of population-targeted genetic screening.
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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.