Associated Papers
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.
Tsai JJ et al.
Scientific Reports, 2019
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Joseph N et al.
Cell Reports, 2018
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S et al.
Journal of Medical Genetics, 2016
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