About this document
SNEC Discussion by Sheng Yu Liu is a document available to read on EtoBox.
The presentation discusses SSBP1 mutations and their association with OPA13, a multi-system disorder primarily affecting mitochondrial function, leading to conditions such as optic atrophy and macular dystrophy. It highlights the susceptibility of retinal ganglion cells (RGCs) to mitochondrial dysfunction and the implications of genetic mosaicism in pathogenic variants. Additionally, it explores the mechanisms of SSBP1 mutations and the need for further animal models to confirm these mechanisms.
- Author
- Sheng Yu Liu
- Language
- EN