ArticlePLoS genetics2011
A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 72 citations in OpenAlex.
- Progress in modelling ATP13A2-linked neurodegeneration.NPJ Parkinson's disease · 2026Review
- Nigral ATP13A2 depletion induces Parkinson's disease-related neurodegeneration in a pilot study in non-human primates.NPJ Parkinson's disease · 2024Article
- ATP13A2 (PARK9) and basal ganglia function.Frontiers in neurology · 2023Review
- Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan.Animals : an open access journal from MDPI · 2022Article
- Adult-Onset Neuronal Ceroid Lipofuscinosis in a Shikoku Inu.Veterinary sciences · 2021Article
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.Journal of veterinary internal medicine · 2021Article
- Review
- Modeling Parkinson's Disease: Not Only Rodents?Frontiers in aging neuroscience · 2021Article
- ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis.Molecular genetics and metabolism · 2019Article
- Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.Expert opinion on orphan drugs · 2019Article
- Phenotypic assays in yeast and zebrafish reveal drugs that rescueBrain communications · 2019Article
- The effect of manganese exposure in Atp13a2-deficient mice.Neurotoxicology · 2018Article
- Article
- Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.Journal of veterinary internal medicine · 2017Article
- Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Ageing research reviews · 2016Review
- Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.Journal of veterinary internal medicine · 2016Article
- Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene.BMC genomics · 2015Article
- α-Synuclein-independent histopathological and motor deficits in mice lacking the endolysosomal Parkinsonism protein Atp13a2.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.BMC veterinary research · 2015Article
- ATP13A2 and Alpha-synuclein: a Metal Taste in Autophagy.Experimental neurobiology · 2014Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuronal ceroid lipofuscinosis (NCL) is a progressive neurodegenerative disease characterized by brain and retinal atrophy and the intracellular accumulation of autofluorescent lysosomal storage bodies resembling lipofuscin in neurons and other cells. Tibetan terriers show a late-onset lethal form of NCL manifesting first visible signs at 5-7 years of age. Genome-wide association analyses for 12 Tibetan-terrier-NCL-cases and 7 Tibetan-terrier controls using the 127K canine Affymetrix SNP chip and mixed model analysis mapped NCL to dog chromosome (CFA) 2 at 83.71-84.72 Mb. Multipoint linkage and association analyses in 376 Tibetan terriers confirmed this genomic region on CFA2. A mutation analysis for 14 positional candidate genes in two NCL-cases and one control revealed a strongly associated single nucleotide polymorphism (SNP) in the MAPK PM20/PM21 gene and a perfectly with NCL associated single base pair deletion (c.1620delG) within exon 16 of the ATP13A2 gene. The c.1620delG mutation in ATP13A2 causes skipping of exon 16 presumably due to a broken exonic splicing enhancer motif. As a result of this mutation, ATP13A2 lacks 69 amino acids. All known 24 NCL cases were homozygous for this deletion and all obligate 35 NCL-carriers were heterozygous. In a sample of 144 dogs from eleven other breeds, the c.1620delG mutation could not be found. Knowledge of the causative mutation for late-onset NCL in Tibetan terrier allows genetic testing of these dogs to avoid matings of carrier animals. ATP13A2 mutations have been described in familial Parkinson syndrome (PARK9). Tibetan terriers with these mutations provide a valuable model for a PARK9-linked disease and possibly for manganese toxicity in synucleinopathies.
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