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Peer-reviewedLicence not statedScience Translational Medicine

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction

  • Caiwei Guo1,2
  • Kuchuan Chen3,4
  • Sarat C. Vatsavayai5,6,7
  • Tetsuya Akiyama1,2
  • Chang Liu1,2
  • Yi Zeng1,2
  • Odilia Sianto1,2
  • Edith Yang1,2
  • Juliane Bombosch1,2
  • Rasheen Powell3,4
  • Shannon Zhen3,4
  • Shila Mekhoubad8,9
11 more authors
  • Ryan D. Morrie8,9
  • Georgiana Miller8,9
  • Dragana Ilic10,9
  • Moritz Boll10,11
  • Euan Parnell12,13,7
  • Peter Penzes12,14,13,2
  • Noa Lipstein10
  • Eric M. Green8
  • Leonard Petrucelli15,16,17
  • William W. Seeley5,6
  • Aaron D. Gitler18,1,19
19 affiliations
  1. 1Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
  2. 2Stanford University
  3. 3F.M. Kirby Neurobiology Center, Boston Children’s Hospital, and Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
  4. 4Boston Children's Hospital, Harvard Medical School
  5. 5Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA
  6. 6Memory and Aging Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA
  7. 7University of California, San Francisco
  8. 8Trace Neuroscience, South San Francisco, CA 94080, USA
  9. 9Trace Neuroscience
  10. 10Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin 13125, Germany
  11. 11Mayo Clinic
  12. 12Department of Neuroscience, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
  13. 13Northwestern University Center for Autism and Neurodevelopment, Chicago, IL 60611, USA
  14. 14Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
  15. 15Department of Neurology, Miller School of Medicine, University of Miami, Miami, FL 33136, USA
  16. 16Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
  17. 17Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
  18. 18Biohub – San Francisco, San Francisco, CA 94158, USA
  19. 19Phil and Penny Knight Initiative for Brain Resilience, Stanford University, Stanford, CA 94305, USA
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Cite

BibTeXRIS
BibTeX
@article{guo2026cryptic,
  title = {{Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction}},
  author = {Caiwei Guo and Kuchuan Chen and Sarat C. Vatsavayai and Tetsuya Akiyama and Chang Liu and Yi Zeng and Odilia Sianto and Edith Yang and Juliane Bombosch and Rasheen Powell and Shannon Zhen and Shila Mekhoubad and Ryan D. Morrie and Georgiana Miller and Dragana Ilic and Moritz Boll and Euan Parnell and Peter Penzes and Noa Lipstein and Eric M. Green and Leonard Petrucelli and William W. Seeley and Aaron D. Gitler},
  journal = {Science Translational Medicine},
  year = {2026},
  month = jun,
  doi = {10.1126/scitranslmed.aeb8517},
  url = {https://doi.org/10.1101/2025.08.28.672801},
}
RIS
TY  - JOUR
TI  - Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction
AU  - Caiwei Guo
AU  - Kuchuan Chen
AU  - Sarat C. Vatsavayai
AU  - Tetsuya Akiyama
AU  - Chang Liu
AU  - Yi Zeng
AU  - Odilia Sianto
AU  - Edith Yang
AU  - Juliane Bombosch
AU  - Rasheen Powell
AU  - Shannon Zhen
AU  - Shila Mekhoubad
AU  - Ryan D. Morrie
AU  - Georgiana Miller
AU  - Dragana Ilic
AU  - Moritz Boll
AU  - Euan Parnell
AU  - Peter Penzes
AU  - Noa Lipstein
AU  - Eric M. Green
AU  - Leonard Petrucelli
AU  - William W. Seeley
AU  - Aaron D. Gitler
PY  - 2026
DA  - 2026/06/03
JO  - Science Translational Medicine
DO  - 10.1126/scitranslmed.aeb8517
UR  - https://doi.org/10.1101/2025.08.28.672801
SN  - 1946-6234
SN  - 1946-6242
ER  -