ArticleThe Journal of cell biology2010
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
Article in The Journal of cell biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 89 citations in OpenAlex.
- Article
- Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellum.bioRxiv : the preprint server for biology · 2026Article
- Chorea-predominant SCA5 mimicking Huntington's disease: A case report with a novelClinical parkinsonism & related disorders · 2026Article
- Wings of Discovery: UsingCells · 2025Review
- The neuron-intrinsic membrane skeleton is required for motor neuron integrity throughout lifespan.bioRxiv : the preprint server for biology · 2025Article
- Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.bioRxiv : the preprint server for biology · 2024Article
- Spectrins: molecular organizers and targets of neurological disorders.Nature reviews. Neuroscience · 2023Review
- β-III-spectrin N-terminus is required for high-affinity actin binding and SCA5 neurotoxicity.Scientific reports · 2022Article
- Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy.Cerebellum (London, England) · 2021Article
- Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5.Annals of clinical and translational neurology · 2021Article
- Cargo hold and delivery: Ankyrins, spectrins, and their functional patterning of neurons.Cytoskeleton (Hoboken, N.J.) · 2020Review
- βII-spectrin promotes mouse brain connectivity through stabilizing axonal plasma membranes and enabling axonal organelle transport.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A dual role for βII-spectrin in axons.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.Brain : a journal of neurology · 2018Article
- Tenectin recruits integrin to stabilize bouton architecture and regulate vesicle release at theeLife · 2018Article
- A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.Cerebellum (London, England) · 2018Review
- Regulation and dysregulation of axon infrastructure by myelinating glia.The Journal of cell biology · 2017Review
- Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation.Nature communications · 2017Article
- β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Diverse mitotic functions of the cytoskeletal cross-linking protein Shortstop suggest a role in Dynein/Dynactin activity.Molecular biology of the cell · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Spinocerebellar ataxia type 5 (SCA5) is an autosomal dominant neurodegenerative disorder caused by mutations in the SPBTN2 gene encoding beta-III-spectrin. To investigate the molecular basis of SCA5, we established a series of transgenic Drosophila models that express human beta-III-spectrin or fly beta-spectrin proteins containing SCA5 mutations. Expression of the SCA5 mutant spectrin in the eye causes a progressive neurodegenerative phenotype, and expression in larval neurons results in posterior paralysis, reduced synaptic terminal growth, and axonal transport deficits. These phenotypes are genetically enhanced by both dynein and dynactin loss-of-function mutations. In summary, we demonstrate that SCA5 mutant spectrin causes adult-onset neurodegeneration in the fly eye and disrupts fundamental intracellular transport processes that are likely to contribute to this progressive neurodegenerative disease.
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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.