ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2013
WDR81 is necessary for purkinje and photoreceptor cell survival.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 35 citations in OpenAlex.
- WDR81 Mutation in Two Siblings: A Case Report and Review of Literature.Molecular syndromology · 2026Article
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- Betaine enhances SCAPs chondrogenic differentiation and promotes cartilage repair in TMJOA through WDR81.Stem cell research & therapy · 2025Article
- Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in theMolecular syndromology · 2025Article
- Article
- Sensory neurons display cell-type-specific vulnerability to loss of neuron-glia interactions.Cell reports · 2022Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.Journal of pediatric genetics · 2021Article
- Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement.Molecular genetics & genomic medicine · 2021Article
- Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes.PLoS genetics · 2021Article
- Inspection of real and imputed genotypes reveled 76 SNPs associated to rear udder height in Holstein cattle.Journal of advanced veterinary and animal research · 2020Article
- Autophagy in Neurons.Annual review of cell and developmental biology · 2019Review
- Animal Models of Tremor: Relevance to Human Tremor Disorders.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018Review
- DNA methylation in demyelinated multiple sclerosis hippocampus.Scientific reports · 2017Article
- The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.The Journal of cell biology · 2017Article
- Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.Human molecular genetics · 2017Article
- A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.Traffic (Copenhagen, Denmark) · 2016Article
- Analysis of Brain Mitochondria Using Serial Block-Face Scanning Electron Microscopy.Journal of visualized experiments : JoVE · 2016Article
- Linking Essential Tremor to the Cerebellum-Animal Model Evidence.Cerebellum (London, England) · 2016Review
- Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes.Scientific reports · 2016Article
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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
The gene encoding the WD repeat-containing protein 81 (WDR81) has recently been described as the disease locus in a consanguineous family that suffers from cerebellar ataxia, mental retardation, and quadrupedal locomotion syndrome (CAMRQ2). Adult mice from the N-ethyl-N-nitrosourea-induced mutant mouse line nur5 display tremor and an abnormal gait, as well as Purkinje cell degeneration and photoreceptor cell loss. We have used polymorphic marker mapping to demonstrate that affected nur5 mice carry a missense mutation, L1349P, in the Wdr81 gene. Moreover, homozygous nur5 mice that carry a wild-type Wdr81 transgene are rescued from the abnormal phenotype, indicating that Wdr81 is the causative gene in nur5. WDR81 is expressed in Purkinje cells and photoreceptor cells, among other CNS neurons, and like the human mutation, the nur5 modification lies in the predicted major facilitator superfamily domain of the WDR81 protein. Electron microscopy analysis revealed that a subset of mitochondria in Purkinje cell dendrites of the mutant animals displayed an aberrant, large spheroid-like structure. Moreover, immunoelectron microscopy and analysis of mitochondrial-enriched cerebellum fractions indicate that WDR81 is localized in mitochondria of Purkinje cell neurons. Because the nur5 mouse mutant demonstrates phenotypic similarities to the human disease, it provides a valuable genetic model for elucidating the pathogenic mechanism of the WDR81 mutation in CAMRQ2.
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