Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans

The CCT/TRiC chaperonin is found in the cytosol of all eukaryotic cells and assists protein folding in an ATP-dependent manner. The heterozygous double mutation T400P and R516H in subunit CCT2 is known to cause Leber congenital amaurosis (LCA), a hereditary congenital retinopathy. This double mutati...

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Detalles Bibliográficos
Autores principales: Roy, Mousam, Fleisher, Rachel C., Alexandrov, Alexander I., Horovitz, Amnon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465592/
https://www.ncbi.nlm.nih.gov/pubmed/37644231
http://dx.doi.org/10.1038/s42003-023-05261-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465592/
https://www.ncbi.nlm.nih.gov/pubmed/37644231
http://dx.doi.org/10.1038/s42003-023-05261-8

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