ReviewJournal of inherited metabolic disease1998
Animal models of lysosomal disease: an overview.
Review in Journal of inherited metabolic disease, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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Who cites it
7 citing papers in PubMed, 22 citations in OpenAlex.
- Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay-Sachs mouse models.Molecular genetics and metabolism reports · 2015Article
- Modeling human neurodegenerative diseases in transgenic systems.Human genetics · 2012Review
- NPC1 late endosomes contain elevated levels of non-esterified ('free') fatty acids and an abnormally glycosylated form of the NPC2 protein.The Biochemical journal · 2005Article
- 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
- Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.Journal of inherited metabolic disease · 2001Review
- Sphingolipids and cell signalling.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
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The relative rarity of human lysosomal disorders, extremely heterogeneous genetic background and ethical restrictions make well-controlled studies difficult with human patients. Genetically authentic animal models complement human patients with their ready availability, homogeneous genetic background and the relatively flexible experimental designs. Spontaneous animal models of human lysosomal disorders are rare, particularly among small laboratory animals. However, the homologous recombination and embryonic stem cell technology has so far enabled us to duplicate almost all known human sphingolipidoses, two mucopolysaccharidoses and aspartylgly-cosaminuria in mice and more disorders 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'. Studies of lysosomal disease have come to the half-way turning point of the marathon race from clincopathological descriptions, identification of affected compounds, enzymology, to the present gene-level inquiries. The animal models will play an important role in our long journey from nucleic acids back to biology. While the utility of these mouse models is obvious, species differences in the brain development and metabolic pathways must be always remembered if the ultimate goal of the study is application to human patients. After all, the mouse is not human.
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.