Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism
In a human neural model, expression of MED12 p.Arg1138Trp altered neural cell development and dysregulated the pre-ribosome complex providing functional evidence of disease aetiology and mechanism in MED12-related disorders.
Authors
- Steven M. Harrison (ORCID: https://orcid.org/0000-0002-9614-9111)
- Michelle C. Ward (ORCID: https://orcid.org/0000-0003-1485-320X)
- 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)
- Emma Kuzminski
- Lily Loughman (ORCID: https://orcid.org/0009-0009-9425-1866)
- Mitchell Hedges
- Cathryn Poulton
- Catherine A. Forbes
- Gareth Baynam
Institutions
- The Kids Research Institute Australia (AU)
- Murdoch University (AU)
- The University of Western Australia (AU)
- Princess Margaret Hospital for Children (AU)
- King Edward Memorial Hospital (AU)
Publication Details
- Journal
- Molecular Medicine
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1186/s10020-025-01365-5
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- McCusker Charitable Foundation
- Australian Government
- Murdoch University
- Department of Health, Government of Western Australia
- Government of Western Australia
- Medical Research Council