@article{oai:kanazawa-u.repo.nii.ac.jp:00043928,
 author = {多田, 隼人 and 川尻, 剛照 and 野原, 淳 and 稲津, 明広 and 小林, 淳二 and 馬渕, 宏 and 山岸, 正和 and Tada, Hayato and Kawashiri, Masa-aki and Nohara, Atsushi and Inazu, Akihiro and Kobayashi, Junji and Mabuchi, Hiroshi and Yamagishi, Masakazu},
 issue = {1},
 journal = {Journal of Atherosclerosis and Thrombosis},
 month = {},
 note = {Autosomal recessive hypercholesterolemia (ARH) is an extremely rare inherited disorder, the cause of which is mutations in the low-density lipoprotein (LDL) receptor adaptor protein 1 (LDLRAP1) gene. Only 36 families with 14 different mutations have been reported in the literature to date. The clinical phenotype of ARH is milder than that of homozygous familial hypercholesterolemia (FH) caused by LDL receptor gene mutations. Recently, the lipoprotein metabolism of ARH was investigated in both humans and mice by several investigators, including ourselves. Based on these findings the preserved clearance of LDL receptor-dependent very-LDL (VLDL) may be a possible mechanism underlying the responsiveness to statins and the milder phenotype of ARH. Although ARH has been described as being “recessive,” several studies, including ours, have indicated that a heterozygous carrier status of the LDLRAP1 gene is associated with mild hypercholesterolemia and exacerbates the phenotype of FH resulting from LDL receptor gene mutations. This review summarizes current understanding regarding ARH and its causative gene, LDLRAP1, and attempts to provide new insight into novel pharmacological targets for treating dyslipidemic patients. © Journal of Atherosclerosis and Thrombosis. All right received., 出版者照会後に全文公開, 金沢大学医薬保健研究域医学系},
 pages = {1--9},
 title = {Autosomal Recessive Hypercholesterolemia: A Mild Phenotype of Familial Hypercholesterolemia: Insight from the Kinetic Study using Stable Isotope and Animal Studies},
 volume = {22},
 year = {2015}
}