Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
- Submitting institution
-
University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 137393_70355
- Type
- D - Journal article
- DOI
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10.1093/brain/awx203
- Title of journal
- Brain
- Article number
- -
- First page
- 2610
- Volume
- 140
- Issue
- 10
- ISSN
- 0006-8950
- Open access status
- Compliant
- Month of publication
- September
- Year of publication
- 2017
- URL
-
https://doi.org/10.1093/brain/awx203
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
32
- Research group(s)
-
-
- Citation count
- 37
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- The publication identifies and characterises known and novel pathogenic AKT3 variants in known human syndromes of brain overgrowth. Gene defect detection studies often involve multiple international collaborative contributing teams and multiple clinicians.
The O’Driscoll lab generated all of the functional data here. Specifically, we designed and developed the AKT3 kinase assay to assess patient-specific pathogenic variants using an ectopic expression and immunoprecipitation approach. This proved that the AKT3 patient variants were gain-of-function kinase hyper-activating. We also generated the lipid binding dataset for the Pleckstrin homology domain localising AKT3 variants.
Mark O’Driscoll constructed Fig 3 and played a key role in drafting the molecular-genetic/functional sections of the manuscript.
- Author contribution statement
- -
- Non-English
- No
- English abstract
- -
