Article
Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.
Journal of atherosclerosis and thrombosis - 1 Sept 2024
Furuta Yasuhisa, Osaki Yoshinori, Nakagawa Yoshimi, Han Song-Iee, Araki Masaya, Shikama Akito, Ohuchi Nami, Yamazaki Daichi, Matsuda Erika, Nohara Seitaro, Mizunoe Yuhei, Kainoh Kenta, Suehara Yasuhito, Ohno Hiroshi, Takeuchi Yoshinori, Miyamoto Takafumi, Murayama Yuki, Sugano Yoko, Iwasaki Hitoshi, Hirano Ken-Ichi, Koseki Masahiro, Nakano Shogo, Tokiwa Hiroaki, Sekiya Motohiro, Yahagi Naoya, Matsuzaka Takashi, Nakamagoe Kiyotaka, Tomidokoro Yasushi, Mitsui Jun, Tsuji Shoji, Suzuki Hiroaki, Shimano Hitoshi
Abstract excerpt
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...
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