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- W1145303707 abstract "Objective Ciliopathies are a group of heterogeneous disorders caused by mutations in proteins associated with primary cilia. Many proteins that are mutated in ciliopathies Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS) and nephronophthisis (NPHP) are localized to the transition zone (TZ), a compartment of the proximal region of the cilium. In particular, a protein complex known as the “MKS-JBTS module” contains many transmembrane proteins (TMEMs) that are mutated in these conditions. Here, we aim to understand the role of the ciliary proteins TMEM67, TMEM138, TMEM216, TMEM237, TMEM17 and TMEM231 by characterizing their biochemical functions and potential interactions. We hypothesize that pathogenic missense mutations disrupt the putative TMEM complex or localization to the TZ. Furthermore, we aim to identify new interacting proteins of TMEMs, including potential ligands of the orphan receptor TMEM67." @default.
- W1145303707 created "2016-06-24" @default.
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- W1145303707 date "2015-07-13" @default.
- W1145303707 modified "2023-10-01" @default.
- W1145303707 title "Biochemical characterization of transmembrane proteins (TMEMs) in the ciliary transition zone" @default.
- W1145303707 doi "https://doi.org/10.1186/2046-2530-4-s1-p75" @default.
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