ArticleFrontiers in cellular neuroscience2021
Ankfy1 Is Involved in the Maintenance of Cerebellar Purkinje Cells.
Article in Frontiers in cellular neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.Brain : a journal of neurology · 2025Article
- Identification of spastic ataxia-related proteins via comparative proteomic analysis of the cerebellum of conditional Ankfy1 knockout mice.Scientific reports · 2025Article
- Genome-wide association analysis of composite sleep health scores in 413,904 individuals.Communications biology · 2025Article
- Compound heterozygous variants of ANKFY1 in a child with infantile-onset proteinuria and movement disorder.Clinical kidney journal · 2024Article
- The cerebellum and cognitive neural networks.Frontiers in human neuroscience · 2023Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purkinje cells are critical for the function of cerebellum. The degeneration of Purkinje cells leads to defects in motion control. We have found that Purkinje cells specifically express Ankfy1 protein during development and in adult. This protein seems to play minor functions during development as Ankfy1 knockout mice appear normal till adult. However, at 9-month-old, knockout mice showed abnormal cerebellum with reduced vermis size and developed defective motor function. Further investigation demonstrated that the cerebellum of the mutant mouse has lost most of its Purkinje cells, while other cerebellar cells remained largely normal. Our data suggested that the
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