ArticleNeurobiology of disease2015
A variant of Nesprin1 giant devoid of KASH domain underlies the molecular etiology of autosomal recessive cerebellar ataxia type I.
Article in Neurobiology of disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 42 citations in OpenAlex.
- Nuclei on the move: LINC complex-dependent and -independent mechanisms of nuclear migration in development.Nucleus (Austin, Tex.) · 2026Review
- Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.Internal medicine (Tokyo, Japan) · 2026Article
- Extending the Mutational Spectrum of SYNE1 Ataxia in Chinese Patients.Cerebellum (London, England) · 2025Article
- A distinct isoform of Msp300 (nesprin) organizes the perinuclear microtubule-organizing center in adipocytes.Molecular biology of the cell · 2025Article
- Apoptosis-induced translocation of nesprin-2 from the nuclear envelope to mitochondria is associated with mitochondrial dysfunction.Nucleus (Austin, Tex.) · 2024Article
- Diverse Roles of the LINC Complex in Cellular Function and Disease in the Nervous System.International journal of molecular sciences · 2024Review
- Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes.Human genome variation · 2024Article
- The Drosophila Nesprin-1 homolog MSP300 is required for muscle autophagy and proteostasis.Journal of cell science · 2024Article
- LINC complex protein nesprin-2 has pro-apoptotic activity via Bcl-2 family proteins.Cell death discovery · 2024Article
- In Vivo Monitoring of Nucleophagy in Caenorhabditis elegans.Methods in molecular biology (Clifton, N.J.) · 2024Article
- GRF2 Is Crucial for Cone Photoreceptor Viability and Ribbon Synapse Formation in the Mouse Retina.Cells · 2023Article
- Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review.Journal of movement disorders · 2023Article
- Emerging roles of centrosome cohesion.Open biology · 2022Review
- Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.Cerebellum (London, England) · 2022Article
- Article
- Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated WithFrontiers in genetics · 2022Article
- Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.Cerebellum (London, England) · 2021Article
- Apoptotic stress induces Bax-dependent, caspase-independent redistribution of LINC complex nesprins.Cell death discovery · 2020Article
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.Scientific reports · 2019Article
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2 authors at 1 institution in 1 country.
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Abstract
Nonsense mutations across the whole coding sequence of Syne1/Nesprin1 have been linked to autosomal recessive cerebellar ataxia Type I (ARCA1). However, nothing is known about the molecular etiology of this late-onset debilitating pathology. In this work, we report that Nesprin1 giant is specifically expressed in CNS tissues. We also identified a CNS-specific splicing event that leads to the abundant expression of a KASH-LESS variant of Nesprin1 giant (KLNes1g) in the cerebellum. KLNes1g displayed a noncanonical localization at glomeruli of cerebellar mossy fibers whereas Nesprin2 exclusively decorated the nuclear envelope of all cerebellar neurons. In immunogold electron microscopy, KLNes1g colocalized both with synaptic vesicles within mossy fibers and with dendritic membranes of cerebellar granule neurons. We further identified vesicle- and membrane-associated proteins in KLNes1g immunoprecipitates. Together, our results suggest that the loss of function of KLNes1g resulting from Nesprin1 nonsense mutations underlies the molecular etiology of ARCA1.
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