Article
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.
Biochemical and biophysical research communications - 18 Jan 2002
Nishida Yoshiharu, Hirano Kenichi, Tsukamoto Kosuke, Nagano Makoto, Ikegami Chiaki, Roomp Kirsten, Ishihara Mitsuaki, Sakane Naoki, Zhang Zhongyan, Tsujii Ki Ken-ichi, Matsuyama Akifumi, Ohama Tohru, Matsuura Fumihiko, Ishigami Masato, Sakai Naohiko, Hiraoka Hisatoyo, Hattori Hiroaki, Wellington Cheryl, Yoshida Yoshihide, Misugi Susumu, Hayden Michael R, Egashira Toru, Yamashita Shizuya, Matsuzawa Yuji
Abstract excerpt
ATP-binding cassette transporter-1 (ABCA1) gene is mutated in patients with familial high-density lipoprotein deficiency (FHD). In order to know the molecular basis for FHD, we characterized three different ABCA1 mutations associated with FHD (G1158A/A255T, C5946T/R1851X, and A5226G/N1611D) with respect to their expression in the passaged fibroblasts from the patients and in the cells transfected with the mutated...
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