<i>TSC2</i> GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex
This study expands our understanding of TSC2 variants, highlighting how altered protein stability and interaction networks contribute to disease pathology. Disruptions in RNA processing and mitochondrial homeostasis may underlie key aspects of the TSC2 phenotype. These findings highlight the potential for precision medicine in TSC and offer scalable framework for modeling other variants in syndromic disorders with uncharacterized pathogenicity.
Authors
- Kagistia Hana Utami
- Velda X. Han (ORCID: https://orcid.org/0000-0003-4633-4316)
- Yazhini Ramaswamy
- Feng Jia (ORCID: https://orcid.org/0000-0001-7916-4566)
- Sarah R. Langley
- Stacey Kiat Hong Tay
- Mahmoud A. Pouladi
- Nur Amirah Bte Mohammad Yusof
Institutions
- Agency for Science, Technology and Research (SG)
- National University of Singapore (SG)
- Keio University (JP)
- National University Health System (SG)
- BC Children's Hospital (CA)
- Cardiff University (GB)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-02-16
- DOI
- https://doi.org/10.1212/nxg.0000000000200351
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00