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- W4225577007 abstract "Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membrane protein composition. Less information is available for BBS6, BBS10, and BBS12, three proteins showing sequence homology with the CCT/TRiC family of group II chaperonins. Even though their chaperonin function is debated, scientific evidence demonstrated that they are required for initial BBSome assembly in vitro. Recent studies suggest that genotype may partially predict clinical outcomes. Indeed, patients carrying truncating mutations in any gene show the most severe phenotype; moreover, mutations in chaperonin-like BBS proteins correlated with severe kidney impairment. This study is a critical review of the literature on genetics, expression level, cellular localization and function of BBS proteins, focusing primarily on the chaperonin-like BBS proteins, and aiming to provide some clues to understand the pathomechanisms of disease in this setting." @default.
- W4225577007 created "2022-05-05" @default.
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- W4225577007 date "2022-03-01" @default.
- W4225577007 modified "2023-09-25" @default.
- W4225577007 title "Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like<scp>BBS6</scp>, 10, and 12 proteins" @default.
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- W4225577007 doi "https://doi.org/10.1002/ajmg.c.31970" @default.
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