Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

Rachita Yadav, Christine A. Vaine, Aloysius Domingo, Siddharth Reed, Shivangi Shah, Dadi Gao, Kathryn O'Keefe, Monica Salani, John Lemanski, Riya Bhavsar, Moira A. McMahon, Michaela Jackson, Margo Courtney, Micaela G. Murcar, Cara Fernandez-Cerado, Gierold Paul A. Legarda, Michelle Sy, M. Salvie Velasco-Andrada, Edwin L. Munoz, Mark Angelo C. Ang, Cid Czarina E. Diesta, Serkan Erdin, Ellen B. Penney, Laurie J. Ozelius, Nutan Sharma, C. Frank Bennett, D. Cristopher Bragg, Michael E. Talkowski

Open source

DOI
10.1101/2025.10.10.25336355
Published
2025-10-13
Container
Not recorded
Publisher
openRxiv
Open access
unknown

Credibility signals

uncertain Score 60/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1101/2025.10.10.25336355,
  title = {Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism},
  author = {Rachita Yadav and Christine A. Vaine and Aloysius Domingo and Siddharth Reed and Shivangi Shah and Dadi Gao and Kathryn O'Keefe and Monica Salani and John Lemanski and Riya Bhavsar and Moira A. McMahon and Michaela Jackson and Margo Courtney and Micaela G. Murcar and Cara Fernandez-Cerado and Gierold Paul A. Legarda and Michelle Sy and M. Salvie Velasco-Andrada and Edwin L. Munoz and Mark Angelo C. Ang and Cid Czarina E. Diesta and Serkan Erdin and Ellen B. Penney and Laurie J. Ozelius and Nutan Sharma and C. Frank Bennett and D. Cristopher Bragg and Michael E. Talkowski},
  year = {2025},
  doi = {10.1101/2025.10.10.25336355},
  url = {https://doi.org/10.1101/2025.10.10.25336355}
}

RIS

TY  - JOUR
TI  - Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism
AU  - Rachita Yadav
AU  - Christine A. Vaine
AU  - Aloysius Domingo
AU  - Siddharth Reed
AU  - Shivangi Shah
AU  - Dadi Gao
AU  - Kathryn O'Keefe
AU  - Monica Salani
AU  - John Lemanski
AU  - Riya Bhavsar
AU  - Moira A. McMahon
AU  - Michaela Jackson
AU  - Margo Courtney
AU  - Micaela G. Murcar
AU  - Cara Fernandez-Cerado
AU  - Gierold Paul A. Legarda
AU  - Michelle Sy
AU  - M. Salvie Velasco-Andrada
AU  - Edwin L. Munoz
AU  - Mark Angelo C. Ang
AU  - Cid Czarina E. Diesta
AU  - Serkan Erdin
AU  - Ellen B. Penney
AU  - Laurie J. Ozelius
AU  - Nutan Sharma
AU  - C. Frank Bennett
AU  - D. Cristopher Bragg
AU  - Michael E. Talkowski
PY  - 2025
DO  - 10.1101/2025.10.10.25336355
UR  - https://doi.org/10.1101/2025.10.10.25336355
ER  - 

APA

Yadav, R., Vaine, C. A., Domingo, A., Reed, S., Shah, S., Gao, D., O'Keefe, K., Salani, M., Lemanski, J., Bhavsar, R., McMahon, M. A., Jackson, M., Courtney, M., Murcar, M. G., Fernandez-Cerado, C., Legarda, G. P. A., Sy, M., Velasco-Andrada, M. S., Munoz, E. L., Ang, M. A. C., Diesta, C. C. E., Erdin, S., Penney, E. B., Ozelius, L. J., Sharma, N., Bennett, C. F., Bragg, D. C., & Talkowski, M. E. (2025). Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism. https://doi.org/10.1101/2025.10.10.25336355

Source records