Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Bozal-Basterra L, Martín-Ruíz I, Pirone L, Liang Y, Sigurðsson JO, Gonzalez-Santamarta M, Giordano I, Gabicagogeascoa E, de Luca A, Rodríguez JA, Wilkie AOM, Kohlhase J, Eastwood D, Yale C, Olsen JV, Rauchman M, Anderson KV, Sutherland JD, Barrio R.
Bozal-Basterra L, et al.
Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017.12.017.
Am J Hum Genet. 2018.
PMID: 29395072
Free PMC article.
By using proximity proteomics, we show that truncated SALL1 interacts with factors related to cilia function, including the negative regulators of ciliogenesis CCP110 and CEP97. This most likely contributes to more frequent cilia formation in TBS-derived fibroblasts, as we …
By using proximity proteomics, we show that truncated SALL1 interacts with factors related to cilia function, including the negative regulat …