A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles Article Swipe
Wei Zhang
,
Swapnil Mittal
,
Ria Thomas
,
Anahid Foroughishafiei
,
Ricardo Bastos
,
Wendy K. Chung
,
Konstantina Skourti-Stathaki
,
Stanley T. Crooke
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1172/jci.insight.187199
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1172/jci.insight.187199
Mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3) gene encoding a protein called JIP3 is an adaption protein of the kinesin-1 complex known to play a role in axonal transport of cargo. Mutations in the gene have been linked to severe neurodevelopmental disorders, resulting in developmental delay, intellectual disability, ataxia, tremor, autism, seizures, and visual impairment. A patient who has a missense mutation in the MAPK8IP3 gene (c. 1714 C>T, Arg578Cys) (R578C) manifests dystonia, gross motor delay, and developmental delay. Here, we showed that the mutation was a toxic gain-of-function mutation that altered the interactome of JIP3; disrupted axonal transport of late endosomes; increased signaling via c-Jun N-terminal kinase, resulting in apoptosis; and disrupted dopamine receptor 1 signaling while not affecting dopamine receptor 2 signaling. Furthermore, in the presence of the mutant protein, we showed that an 80% reduction of mutant JIP3 and a 60% reduction of WT JIP3 by non-allele-selective phosphorothioate-modified antisense oligonucleotides was well tolerated by several types of cells in vitro. Our study identifies what we believe to be several important new roles for JIP3 and provides important insights for therapeutic approaches, including antisense oligonucleotide reduction of JIP3.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1172/jci.insight.187199
- http://insight.jci.org/articles/view/187199/files/pdf
- OA Status
- gold
- References
- 52
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4408657097
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4408657097Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1172/jci.insight.187199Digital Object Identifier
- Title
-
A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular rolesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2025Year of publication
- Publication date
-
2025-03-20Full publication date if available
- Authors
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Wei Zhang, Swapnil Mittal, Ria Thomas, Anahid Foroughishafiei, Ricardo Bastos, Wendy K. Chung, Konstantina Skourti-Stathaki, Stanley T. CrookeList of authors in order
- Landing page
-
https://doi.org/10.1172/jci.insight.187199Publisher landing page
- PDF URL
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https://insight.jci.org/articles/view/187199/files/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
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-
goldOpen access status per OpenAlex
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https://insight.jci.org/articles/view/187199/files/pdfDirect OA link when available
- Concepts
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Gain of function, Function (biology), Computational biology, Chemistry, Cell biology, Biology, Physics, Computer science, Genetics, Mutation, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
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52Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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