ArticleNeurobiology of disease2008
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.
Article in Neurobiology of disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 74 citations in OpenAlex.
- Morphometric Brain Changes in a Merino Sheep (Biology · 2026Article
- Article
- Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease.bioRxiv : the preprint server for biology · 2026Article
- Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.Nature reviews. Neurology · 2025Review
- Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep.Brain and behavior · 2025Article
- Innovating spinal muscular atrophy models in the therapeutic era.Disease models & mechanisms · 2023Article
- A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.Disease models & mechanisms · 2023Article
- Efficacy of dual intracerebroventricular and intravitrealFrontiers in pharmacology · 2023Article
- Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis.Brain communications · 2023Article
- Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease.Frontiers in genetics · 2023Article
- Modelling Neurological Diseases in Large Animals: Criteria for Model Selection and Clinical Assessment.Cells · 2022Review
- Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.Developmental neurobiology · 2022Article
- Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses.Scientific reports · 2022Article
- The Translational Benefits of Sheep as Large Animal Models of Human Neurological Disorders.Frontiers in veterinary science · 2022Review
- Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2022Review
- Article
- Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.Experimental eye research · 2021Article
- A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.Cellular and molecular life sciences : CMLS · 2021Review
- Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon inG3 (Bethesda, Md.) · 2020Article
- The development of brain magnetic resonance approaches in large animal models for preclinical research.Animal frontiers : the review magazine of animal agriculture · 2019Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
Abstract
Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different genes have been identified, each associated with a different form. Linkage analysis indicated a CLN5 form in a colony of affected New Zealand Borderdale sheep. Sequencing studies established the disease-causing mutation to be a substitution at a consensus splice site (c.571+1G>A), leading to the excision of exon 3 and a truncated putative protein. A molecular diagnostic test has been developed based on the excision of exon 3. Sequence alignments support the gene product being a soluble lysosomal protein. Western blotting of isolated storage bodies indicates the specific storage of subunit c of mitochondrial ATP synthase. This flock is being expanded as a large animal model for mechanistic studies and trial therapies.
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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.