Associated Papers
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Rachel RA et al.
The Journal of Clinical Investigation, 2012
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Hirayama S et al.
Molecular Biology of the Cell, 2008
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Kim JC et al.
Journal of Cell Science, 2005
The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N
Human Molecular Genetics, 2004
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Badano JL et al.
Human Molecular Genetics, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL et al.
American Journal of Human Genetics, 2003
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