Start Date
2018
Description
- Establish a yeast model system for the study of BCS1L function.
- Develop assays to investigate differences in mitochondrial efficiency and electron transport chain functionality of BCS1L mutants.
- Connect hearing-loss associated BCS1L mutations to mitochondrial structure and function to better explain the clinical variation observed in patients with BCS1L mutations
Recommended Citation
Reese, Kalina; Stewart, Shannon; Baker, Rachael; and Wilstermann, Amy, "Elucidating Genotype-Phenotype Relationships in BCS1L Mutations" (2018). Summer Research. 5.
https://digitalcommons.calvin.edu/summer_research/2018/Posters/5
Included in
Biochemistry, Biophysics, and Structural Biology Commons, Cell and Developmental Biology Commons
Jan 1st, 12:00 AM
Elucidating Genotype-Phenotype Relationships in BCS1L Mutations
- Establish a yeast model system for the study of BCS1L function.
- Develop assays to investigate differences in mitochondrial efficiency and electron transport chain functionality of BCS1L mutants.
- Connect hearing-loss associated BCS1L mutations to mitochondrial structure and function to better explain the clinical variation observed in patients with BCS1L mutations