Ontology highlight
ABSTRACT:
SUBMITTER: Bozal-Basterra L
PROVIDER: S-EPMC7363444 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Bozal-Basterra Laura L Gonzalez-Santamarta María M Muratore Veronica V Bermejo-Arteagabeitia Aitor A Da Fonseca Carolina C Barroso-Gomila Orhi O Azkargorta Mikel M Iloro Ibon I Pampliega Olatz O Andrade Ricardo R Martín-Martín Natalia N Branon Tess C TC Ting Alice Y AY Rodríguez Jose A JA Carracedo Arkaitz A Elortza Felix F Sutherland James D JD Barrio Rosa R
eLife 20200618
Primary cilia are sensory organelles crucial for cell signaling during development and organ homeostasis. Cilia arise from centrosomes and their formation and function is governed by numerous factors. Through our studies on Townes-Brocks Syndrome (TBS), a rare disease linked to abnormal cilia formation in human fibroblasts, we uncovered the leucine-zipper protein LUZP1 as an interactor of truncated SALL1, a dominantly-acting protein causing the disease. Using TurboID proximity labeling and pulld ...[more]