ReviewBrain pathology (Zurich, Switzerland)1998
Mouse models of human lysosomal diseases.
Review in Brain pathology (Zurich, Switzerland), 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
9 citing papers in PubMed, 50 citations in OpenAlex.
- Fabry disease.Orphanet journal of rare diseases · 2010Review
- Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features.Proceedings of the National Academy of Sciences of the United States of America · 2003Article
- Substrate reduction therapy in mouse models of the glycosphingolipidoses.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.Journal of inherited metabolic disease · 2001Review
- Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?Journal of inherited metabolic disease · 2001Review
- Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses.Journal of inherited metabolic disease · 2001Review
- A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.The Journal of clinical investigation · 1999Article
- Animal models of lysosomal disease: an overview.Journal of inherited metabolic disease · 1998Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Genetically authentic animal models of human lysosomal diseases occur spontaneously in many mammalian species. However, most are among larger domestic or farm animals with only two well-defined genetic lysosomal diseases known among rodents. This status changed dramatically in recent years with the advent of the combined homologous recombination and embryonic stem cell technology, which allows directed generation of mouse models that are genetically equivalent to human diseases. Almost all known human sphingolipidoses, two mucopolysaccharidoses and aspartylglycosaminuria have so far been duplicated in mice and more are expected in the near future. This technology also allows generation of mouse mutants that are not known or are highly unlikely to exist in humans, such as "double-knockouts." These animal models will play an important role in studies of the pathogenesis and treatment of these disorders. While the utility of these mouse models is obvious, species differences in brain development and metabolic pathways must be always remembered, if the ultimate goal of the study is application to human patients.
Indexed as
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What OpenQuestion holds
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.