Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling
We developed a human SETBP1-HD model and identified perturbations to the WNT and POL2RA pathway, genes regulated by GATA2. Strikingly neural cells for both the SETBP1 truncation mutations and the single nucleotide variant displayed a SETBP1-HD-like phenotype.
Authors
- Vanessa S. Fear (ORCID: https://orcid.org/0000-0001-8363-6685)
- Nicole C. Shaw (ORCID: https://orcid.org/0000-0003-0810-1503)
- Timo Lassmann (ORCID: https://orcid.org/0000-0002-0138-2691)
- Kevin G. Chen (ORCID: https://orcid.org/0000-0003-2983-6330)
- Kathryn O. Farley (ORCID: https://orcid.org/0000-0002-8600-3821)
- Mitchell Hedges
- Catherine A. Forbes
- Gareth Baynam
Institutions
- The Kids Research Institute Australia (AU)
- The University of Western Australia (AU)
- Princess Margaret Hospital for Children (AU)
Publication Details
- Journal
- Molecular Autism
- Published
- 2024-09-30
- DOI
- https://doi.org/10.1186/s13229-024-00625-1
- Citations
- 3
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.65
Funders
- University of Pennsylvania
- Wellcome Trust
- Strong
- McCusker Charitable Foundation
- Department of Health, Government of Western Australia
- Government of Western Australia
- Stan Perron Charitable Foundation
- Medical Research Council