Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs Article Swipe
Matthew J. Keuss
,
Peter Harly
,
Eugeni Ryadnov
,
Rachel E. Jackson
,
Matteo Zanovello
,
Oscar G. Wilkins
,
Simone Barattucci
,
Puja R. Mehta
,
Marcio Guiomar Oliveira
,
Joanna E. Parkes
,
A. K. Sinha
,
Andrés F. Correa-Sánchez
,
Peter L. Oliver
,
Elizabeth Fisher
,
Giampietro Schiavo
,
Mala M. Shah
,
Juan Burrone
,
Pietro Fratta
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.06.20.599684
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1101/2024.06.20.599684
TDP-43 loss of function induces multiple splicing changes, including a cryptic exon in the amyotrophic lateral sclerosis and fronto-temporal lobar degeneration risk gene UNC13A, leading to nonsense-mediated decay of UNC13A transcripts and loss of protein. UNC13A is an active zone protein with an integral role in coordinating pre-synaptic function. Here, we show TDP-43 depletion induces a severe reduction in synaptic transmission, leading to an asynchronous pattern of network activity. We demonstrate that these deficits are largely driven by a single cryptic exon in UNC13A. Antisense oligonucleotides targeting the UNC13A cryptic exon robustly rescue UNC13A protein levels and restore normal synaptic function, providing a potential new therapeutic approach for ALS and other TDP-43-related disorders.
Related Topics
Concepts
Exon
Loss function
Neurotransmission
Amyotrophic lateral sclerosis
Biology
Neuroscience
RNA splicing
splice
Exon skipping
Alternative splicing
Cell biology
Gene
Genetics
Medicine
Phenotype
Internal medicine
RNA
Disease
Receptor
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2024.06.20.599684
- https://www.biorxiv.org/content/biorxiv/early/2024/06/24/2024.06.20.599684.full.pdf
- OA Status
- green
- Cited By
- 21
- References
- 37
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4399985924
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4399985924Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1101/2024.06.20.599684Digital Object Identifier
- Title
-
Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOsWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-06-24Full publication date if available
- Authors
-
Matthew J. Keuss, Peter Harly, Eugeni Ryadnov, Rachel E. Jackson, Matteo Zanovello, Oscar G. Wilkins, Simone Barattucci, Puja R. Mehta, Marcio Guiomar Oliveira, Joanna E. Parkes, A. K. Sinha, Andrés F. Correa-Sánchez, Peter L. Oliver, Elizabeth Fisher, Giampietro Schiavo, Mala M. Shah, Juan Burrone, Pietro FrattaList of authors in order
- Landing page
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https://doi.org/10.1101/2024.06.20.599684Publisher landing page
- PDF URL
-
https://www.biorxiv.org/content/biorxiv/early/2024/06/24/2024.06.20.599684.full.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.biorxiv.org/content/biorxiv/early/2024/06/24/2024.06.20.599684.full.pdfDirect OA link when available
- Concepts
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Exon, Loss function, Neurotransmission, Amyotrophic lateral sclerosis, Biology, Neuroscience, RNA splicing, splice, Exon skipping, Alternative splicing, Cell biology, Gene, Genetics, Medicine, Phenotype, Internal medicine, RNA, Disease, ReceptorTop concepts (fields/topics) attached by OpenAlex
- Cited by
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21Total citation count in OpenAlex
- Citations by year (recent)
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2025: 18, 2024: 3Per-year citation counts (last 5 years)
- References (count)
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37Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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