Yasuhisa Furuta, Yoshinori Osaki, Yoshimi Nakagawa, Song-Iee Han, Masaya Araki, Akito Shikama, Nami Ohuchi, Daichi Yamazaki, Erika Matsuda, Seitaro Nohara, Yuhei Mizunoe, Kenta Kainoh, Yasuhito Suehara, Hiroshi Ohno, Yoshinori Takeuchi, Takafumi Miyamoto, Yuki Murayama, Yoko Sugano, Hitoshi Iwasaki, Ken-Ichi Hirano, Masahiro Koseki, Shogo Nakano, Hiroaki Tokiwa, Motohiro Sekiya, Naoya Yahagi, Takashi Matsuzaka, Kiyotaka Nakamagoe, Yasushi Tomidokoro, Jun Mitsui, Shoji Tsuji, Hiroaki Suzuki, Hitoshi Shimano
AIM: This study aimed to analyze two cases of marked hypo-high-density lipoprotein (HDL) cholesterolemia to identify mutations in ATP-binding cassette transporter A1 (ABCA1) and elucidate the molecular mechanism by which these novel pathological mutations contribute to hypo-HDL cholesterolemia in Tangier disease. METHODS: Wild type and mutant expression plasmids containing a FLAG tag inserted at the C-terminus of the human ABCA1 gene were generated and transfected into HEK293T cells...
March 28, 2024: Journal of Atherosclerosis and Thrombosis