ReviewNeurobiology of disease2017
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Review in Neurobiology of disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
34 citing papers in PubMed, 52 citations in OpenAlex.
- Article
- Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants inGenes · 2025Article
- Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets.Nature reviews. Neurology · 2025Review
- Canine generalized ceroid lipofuscinosis characterized by predominant deposition in pancreatic acinar cells and intestinal smooth muscle cells.Journal of toxicologic pathology · 2025Article
- Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?Diagnostics (Basel, Switzerland) · 2024Review
- Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model.Neurobiology of disease · 2024Article
- Article
- A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.Metabolic brain disease · 2024Article
- HomozygousGenes · 2024Article
- Article
- Magnetic resonance imaging pattern recognition of metabolic and neurodegenerative encephalopathies in dogs and cats.Frontiers in veterinary science · 2024Article
- Manifestations of systemic disease in the retina and fundus of cats and dogs.Frontiers in veterinary science · 2024Review
- A HomozygousGenes · 2023Article
- A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.International journal of molecular sciences · 2022Review
- Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan.Animals : an open access journal from MDPI · 2022Article
- Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.Developmental neurobiology · 2022Article
- Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.Molecules (Basel, Switzerland) · 2021Review
- Adult-Onset Neuronal Ceroid Lipofuscinosis in a Shikoku Inu.Veterinary sciences · 2021Article
- Evaluation of genetic diversity and management of disease in Border Collie dogs.Scientific reports · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
The neuronal ceroid lipofuscinoses (NCLs) are devastating inherited progressive neurodegenerative diseases, with most forms having a childhood onset of clinical signs. The NCLs are characterized by progressive cognitive and motor decline, vision loss, seizures, respiratory and swallowing impairment, and ultimately premature death. Different forms of NCL result from mutations in at least 13 genes. The clinical signs of some forms overlap significantly, so genetic testing is the only way to definitively determine which form an individual patient suffers from. At present, an effective treatment is available for only one form of NCL. Evidence of NCL has been documented in over 20 canine breeds and in mixed-breed dogs. To date, 12 mutations in 8 different genes orthologous to the human NCL genes have been found to underlie NCL in a variety of dog breeds. A Dachshund model with a null mutation in one of these genes is being utilized to investigate potential therapeutic interventions, including enzyme replacement and gene therapies. Demonstration of the efficacy of enzyme replacement therapy in this model led to successful completion of human clinical trials of this treatment. Further research into the other canine NCLs, with in-depth characterization and understanding of the disease processes, will likely lead to the development of successful therapeutic interventions for additional forms of NCL, for both human patients and animals with these disorders.
Indexed as
Identifiers
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.