Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.

doi:10.1093/hmg/ddab354

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Article

Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.

Human molecular genetics - 19 May 2022

Zhou Zhuang, Qiu Hantian, Castro-Araya Roiner-Francisco, Takei Ryota, Nakayama Kazuhisa, Katoh Yohei

Abstract excerpt

The IFT-B complex mediates ciliary anterograde protein trafficking and membrane protein export together with the BBSome. Bardet-Biedl syndrome (BBS) is caused by mutations in not only all BBSome subunits but also in some IFT-B subunits, including IFT74/BBS22 and IFT27/BBS19, which form heterodime...

Topics

Bardet-Biedl Syndrome
Cilia
Cytoskeletal Proteins
Flagella
Humans
Intracellular Signaling Peptides and Proteins
Muscle Proteins
Mutation
Protein Binding

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