ReviewActa paediatrica (Oslo, Norway : 1992)2007
Animal models for mucopolysaccharidosis disorders and their clinical relevance.
Review in Acta paediatrica (Oslo, Norway : 1992), 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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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
24 citing papers in PubMed, 54 citations in OpenAlex.
- N-glycan-modified α-L-iduronidase produced by transgenic silkworms ameliorates clinical signs in a Japanese macaque with mucopolysaccharidosis I.Communications medicine · 2025Article
- Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.Cell biochemistry and biophysics · 2023Article
- Bone Growth Induction in Mucopolysaccharidosis IVA Mouse.International journal of molecular sciences · 2023Article
- Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs.Molecular therapy. Methods & clinical development · 2023Article
- The Interplay of Glycosaminoglycans and Cysteine Cathepsins in Mucopolysaccharidosis.Biomedicines · 2023Review
- Delivering gene therapy for mucopolysaccharide diseases.Frontiers in molecular biosciences · 2022Review
- Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.International journal of molecular sciences · 2021Review
- Ultrastructural analysis of different skeletal cell types in mucopolysaccharidosis dogs at the onset of postnatal growth.Journal of anatomy · 2021Article
- Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions.Scientific reports · 2020Article
- A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.Journal of veterinary internal medicine · 2020Article
- Growth Plate Pathology in the Mucopolysaccharidosis Type VI Rat Model-An Experimental and Computational Approach.Diagnostics (Basel, Switzerland) · 2020Article
- Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.Scientific reports · 2020Article
- Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.Animals : an open access journal from MDPI · 2020Article
- Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases.Frontiers in veterinary science · 2020Review
- Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock.Avian pathology : journal of the W.V.P.A · 2018Article
- Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.Molecular genetics and metabolism · 2016Review
- Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.Molecular genetics and metabolism · 2015Article
- Clinical neurogenetics: neuropathic lysosomal storage disorders.Neurologic clinics · 2013Review
- Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.Journal of inherited metabolic disease · 2013Article
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1 author at 1 institution in 1 country.
Funding
Abstract
unlabelledProgress in understanding how a particular genotype produces the phenotype of an inborn error of metabolism, such as a mucopolysaccharidosis, in human patients has been facilitated by the study of animals with mutations in the orthologous genes. These are not just animal models, but true orthologues of the human genetic disease, with defects involving the same evolutionarily conserved genes and the same molecular, biochemical, and anatomic lesions as in human patients. These animals are often domestic species because of the individual medical attention paid to them, particularly dogs and cats. In addition, naturally occurring mouse models have also been found in breeding colonies. Within the last several decades, advances in molecular biology have allowed the production of knockout mouse models of human genetic disease, including the lysosomal storage diseases. The ability to use both inbred strains of a small, prolific species together with larger out-bred animals found because of their disease phenotype provides a powerful combination with which to investigate pathogenesis, develop approaches to therapy, and define biomarkers to evaluate therapeutic success. This has been true for the inborn errors of metabolism and, in particular, the mucopolysaccharidoses.
conclusionAnimal models of human genetic disease continue to play an important role in understanding the molecular and physiological consequences of lysosomal storage diseases and to provide an opportunity to evaluate the efficacy and safety of therapeutic interventions.
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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.