Article
MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.
Molecular biology of the cell - 1 Mar 2008
Hirayama Shoshiro, Yamazaki Yuji, Kitamura Akira, Oda Yukako, Morito Daisuke, Okawa Katsuya, Kimura Hiroshi, Cyr Douglas M, Kubota Hiroshi, Nagata Kazuhiro
Abstract excerpt
McKusick-Kaufman syndrome (MKKS) is a recessively inherited human genetic disease characterized by several developmental anomalies. Mutations in the MKKS gene also cause Bardet-Biedl syndrome (BBS), a genetically heterogeneous disorder with pleiotropic symptoms. However, little is known about how...
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