Associated Papers
Compound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.
Suga A et al.
Communications Biology, 2024
Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.
Roy M et al.
Communications Biology, 2023
CCT2 is an aggrephagy receptor for clearance of solid protein aggregates.
Ma X et al.
Cell, 2022
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C et al.
Genes, 2020
CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs.
Naert T et al.
Drug Discovery Today. Technologies, 2018
Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.
Minegishi Y et al.
Investigative Ophthalmology & Visual Science, 2018
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.
Minegishi Y et al.
Scientific Reports, 2016
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