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Page 1
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. Among authors: gonzalez santamarta m. 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.
Constitutive Activation of p62/Sequestosome-1-Mediated Proteaphagy Regulates Proteolysis and Impairs Cell Death in Bortezomib-Resistant Mantle Cell Lymphoma.
Quinet G, Xolalpa W, Reyes-Garau D, Profitós-Pelejà N, Azkargorta M, Ceccato L, Gonzalez-Santamarta M, Marsal M, Andilla J, Aillet F, Bosch F, Elortza F, Loza-Alvarez P, Sola B, Coux O, Matthiesen R, Roué G, Rodriguez MS. Quinet G, et al. Among authors: gonzalez santamarta m. Cancers (Basel). 2022 Feb 12;14(4):923. doi: 10.3390/cancers14040923. Cancers (Basel). 2022. PMID: 35205670 Free PMC article.
LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.
Bozal-Basterra L, Gonzalez-Santamarta M, Muratore V, Bermejo-Arteagabeitia A, Da Fonseca C, Barroso-Gomila O, Azkargorta M, Iloro I, Pampliega O, Andrade R, Martín-Martín N, Branon TC, Ting AY, Rodríguez JA, Carracedo A, Elortza F, Sutherland JD, Barrio R. Bozal-Basterra L, et al. Among authors: gonzalez santamarta m. Elife. 2020 Jun 18;9:e55957. doi: 10.7554/eLife.55957. Elife. 2020. PMID: 32553112 Free PMC article.