ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies
oleh: Hyun-Sook Park, Eirini Papanastasi, Gabriela Blanchard, Elena Chiticariu, Daniel Bachmann, Markus Plomann, Fanny Morice-Picard, Pierre Vabres, Asma Smahi, Marcel Huber, Christine Pich, Daniel Hohl
| Format: | Article |
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| Diterbitkan: | Nature Portfolio 2021-05-01 |
Deskripsi
Park et al. characterise the interactome, localisation and function of Actin-Related Protein-Testis1 protein (ARP-T1), encoded by the ACTRT1 gene, associated with inherited basal cell cancer. They find that ARP-T1 is localised to the primary cilia basal body in epidermal cells, interacts with the cilia machinery, and is needed for proper ciliogenesis.