ArticleJournal of inherited metabolic disease2010
Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Inborn errors of metabolism: Lessons from iPSC models.Reviews in endocrine & metabolic disorders · 2021Review
- Exacerbating and reversing lysosomal storage diseases: from yeast to humans.Microbial cell (Graz, Austria) · 2017Review
- Adeno-Associated Virus-Based Gene Therapy for CNS Diseases.Human gene therapy · 2016Review
- Congenital and inherited neurologic diseases in dogs and cats: Legislation and its effect on purchase in Italy.Veterinary world · 2016Review
- Disease models for the development of therapies for lysosomal storage diseases.Annals of the New York Academy of Sciences · 2016Review
- Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier.Molecular genetics and metabolism · 2015Review
- Sphingolipid lysosomal storage disorders.Nature · 2014Review
- Glycan-based biomarkers for mucopolysaccharidoses.Molecular genetics and metabolism · 2014Review
- Blood-brain barrier structure and function and the challenges for CNS drug delivery.Journal of inherited metabolic disease · 2013Review
- Postnatal neural precursor cell regions in the rostral subventricular zone, hippocampal subgranular zone and cerebellum of the dog (Canis lupus familiaris).Histochemistry and cell biology · 2013Article
- Immunologic privilege in the central nervous system and the blood-brain barrier.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2013Review
- Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy.The Journal of biological chemistry · 2012Article
- Selective yolk deposition and mannose phosphorylation of lysosomal glycosidases in zebrafish.The Journal of biological chemistry · 2010Article
- Therapeutic approaches for lysosomal storage diseases.Therapeutic advances in endocrinology and metabolism · 2010Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 50 inborn errors of metabolism known as lysosomal storage disorders have been discovered to date, most of which are due to a single mutation in a gene encoding a soluble lysosomal enzyme. Consequently, inadequate enzyme activity results in the accumulation of substrates for that enzyme, invariably accompanied by a wide variety of secondary pathological changes. Many of these conditions remain untreatable, and therefore, research into pathogenic processes and potential treatment strategies is intense. A key tool for researchers in this area is the availability of clinically relevant animal models in which to study disease manifestation and evaluate therapeutic outcomes. Large numbers of both naturally occurring and genetically modified animal models of neurodegenerative lysosomal storage disorders are in existence, with spontaneous models occurring in both large domestic (e.g., cat, dog, sheep) and small (e.g., mouse) animal species. Many have undergone rigorous phenotypic characterization and are now providing us with insights into neurological disease processes. The purpose of this review is to highlight some of the major lessons learnt from these studies.
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Registered trials
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