Kröll-Hermi et al., 2020
- Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
EMBO Molecular Medicine
12(7):e11861
Full text @ EMBO Mol. Med.
Human Disease | Fish | Environment | Evidence Code |
---|---|---|---|
cataract |
WT + CRISPR2-psmc3 WT + MO1-psmc3 |
standard conditions standard conditions |
|
sensorineural hearing loss | WT + CRISPR2-psmc3 | standard conditions |