CEP120

Publications

Bachmann-Gagescu R et al. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020;182(1):229-49. PMID: 31710777.

Lin Y et al. CEP120 interacts with CPAP and positively regulates centriole elongation. J Cell Biol. 2013;202(2):211–9. PMID: 23857771.

Mahjoub MR et al. Cep120 is asymmetrically localized to the daughter centriole and is essential for centriole assembly. J Cell Biol. 2010;191(2):331-46. PMID: 20956381.

Poyner SE et al. Jeune syndrome: considerations for management of asphyxiating thoracic dystrophy. Neonatal Netw. 2013;32(5):342-52. PMID: 23985472.

Roosing S et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016;53(9):608-15. PMID: 27208211.

Shaheen R et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015;24(5):1410-9. PMID: 25361962.

Tsai JJ et al. CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. Sci Rep. 2019;9:6037. PMID: 30988386.

Wu C et al. Talpid3-binding centrosomal protein Cep120 is required for centriole duplication and proliferation of cerebellar granule neuron progenitors. PLoS One. 2014;9(9):e107943. PMID: 25251415.

Xie Z et al. Cep120 and TACCs control interkinetic nuclear migration and the neural progenitor pool. Neuron. 2007;56(1):79-93. PMID: 17920017.