ArticleGenes2025
An RB1CC1 Missense Variant in Nova Scotia Duck Tolling Retrievers with Degenerative Encephalopathy.
Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 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
3 citing papers in PubMed.
- Congenital Myasthenic Syndrome in Doberman Pinscher Dogs Is Associated with a Homozygous Missense Variant inBiomolecules · 2026Article
- A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene.Journal of veterinary internal medicine · 2026Article
- Canine Neuronal Ceroid Lipofuscinosis-like Disorder Associated with Sequence Variants inGenes · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
BACKGROUND/
objectivesA slowly progressive hereditary neurological disorder classified as degenerative encephalopathy (DE) occurs in Nova Scotia Duck Tolling Retrievers. The disease is characterized by frequent episodes of pronounced involuntary movements during sleep, cognitive impairment, anxiety, heightened sensitivity to sensory stimuli, and compulsive behaviors. The clinical signs are accompanied by the degeneration of several brain regions. A study was undertaken to identify the molecular genetic basis of this disorder.
methodsWhole genome sequences (WGSs) from the DNA of affected and unaffected Nova Scotia Duck Tolling Retrievers were aligned to the Dog10K_Boxer_Tasha reference genome assembly and to the WGSs of 334 additional control dogs generated by this laboratory.
resultsA missense C>T variant was identified in
conclusionsRBCC1 is an essential component of a protein complex that mediates the initiation of autophagosome formation. Therefore, it appears likely that the disease results, at least in part, from impaired autophagy. Consistent with this possibility, brain neurons of an affected dog were found to contain abnormal lysosomal storage body-like inclusions. This disorder could serve as a valuable model to elucidate the mechanisms underlying human diseases associated with impaired autophagy. Identification of the disease-causing DNA sequence variant will enable owners of Nova Scotia Duck Tolling Retrievers to screen their dogs for the
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.