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BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
Marion V, Mockel A, De Melo C, Obringer C, Claussmann A, Simon A, Messaddeq N, Durand M, Dupuis L, Loeffler JP, King P, Mutter-Schmidt C, Petrovsky N, Stoetzel C, Dollfus H. Marion V, et al. Among authors: claussmann a. Cell Metab. 2012 Sep 5;16(3):363-77. doi: 10.1016/j.cmet.2012.08.005. Cell Metab. 2012. PMID: 22958920 Free article.
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H. Marion V, et al. Among authors: claussmann a. J Med Genet. 2012 May;49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510444