Associated Papers
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
Wang C et al.
Jci Insight, 2024
Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.
Benndorf R et al.
Cell Stress & Chaperones, 2022
35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M et al.
Neurogenetics, 2021
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
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