Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models

Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9; OMIM: 615031). Little is known about the biologica...

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Detalles Bibliográficos
Autores principales: Williams, Luis A., Gerber, David J., Elder, Amy, Tseng, Wei Chou, Baru, Valeriya, Delaney-Busch, Nathaniel, Ambrosi, Christina, Mahimkar, Gauri, Joshi, Vaibhav, Shah, Himali, Harikrishnan, Karthiayani, Upadhyay, Hansini, Rajendran, Sakthi H., Dhandapani, Aishwarya, Meier, Joshua, Ryan, Steven J., Lewarch, Caitlin, Black, Lauren, Douville, Julie, Cinquino, Stefania, Legakis, Helen, Nalbach, Karsten, Behrends, Christian, Sato, Ai, Galluzzi, Lorenzo, Yu, Timothy W., Brown, Duncan, Agrawal, Sudhir, Margulies, David, Kopin, Alan, Dempsey, Graham T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9287140/
https://www.ncbi.nlm.nih.gov/pubmed/35860385
http://dx.doi.org/10.1016/j.omtn.2022.06.015

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