Translating IGHMBP2 Variants with a CMT2S Patient-specific Organ-on-a-chip Model: Personalized Medicine ASO-based Therapeutic Rescue (P12-11.017)
To rescue neuromuscular defects caused by immunoglobulin mu-binding protein 2 (IGHMBP2) variants by targeting a Charcot-Marie-Tooth disease Type 2S (CMT2S) patient-specific splice site variant with a novel antisense oligonucleotide (ASO).
Authors
- Heather Cannon-Patron
- Caroline E. Johnson
- Rocky Brighton
- Nesar Akanda
- James J. Hickman (ORCID: https://orcid.org/0000-0002-1621-3006)
- Xiufang Guo (ORCID: https://orcid.org/0000-0002-3108-9349)
- Mihael H. Polymeropoulos (ORCID: https://orcid.org/0000-0001-5065-5353)
- C.F. Tyner
- Christos Polymeropoulos (ORCID: https://orcid.org/0000-0002-8920-8013)
- Gunther Birznieks
- Sandra Smieszek (ORCID: https://orcid.org/0000-0002-8006-0454)
- Leticia Lenkiu
- Bart Przychodzen
- Walker Hagan
- Caitlyn Niccum
- Kenneth Hawkins
Institutions
- Center for NanoScience (DE)
- Vanda Pharmaceuticals (United States) (US)
- Hesperos (United States) (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210652
- Primary Topic
- 3D Printing in Biomedical Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00