| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2018-05-10 |
| タイトル |
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タイトル |
Autosomal Recessive Hypercholesterolemia: A Mild Phenotype of Familial Hypercholesterolemia: Insight from the Kinetic Study using Stable Isotope and Animal Studies |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| ID登録 |
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|
ID登録 |
10.24517/00050270 |
|
ID登録タイプ |
JaLC |
| 著者 |
Tada, Hayato
Kawashiri, Masa-aki
Nohara, Atsushi
Inazu, Akihiro
Kobayashi, Junji
Mabuchi, Hiroshi
Yamagishi, Masakazu
|
| 著者別表示 |
多田, 隼人
川尻, 剛照
野原, 淳
稲津, 明広
小林, 淳二
馬渕, 宏
山岸, 正和
|
| 提供者所属 |
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内容記述タイプ |
Other |
|
内容記述 |
金沢大学医薬保健研究域医学系 |
| 書誌情報 |
Journal of Atherosclerosis and Thrombosis
巻 22,
号 1,
p. 1-9,
発行日 2015
|
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
1340-3478 |
| NCID |
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収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA11018976 |
| DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
10.5551/jat.27227 |
| 出版者 |
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出版者 |
Japan Atherosclerosis Society = 日本動脈硬化学会 |
| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
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. |
| 内容記述 |
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内容記述タイプ |
Other |
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内容記述 |
出版者照会後に全文公開 |
| 権利 |
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|
権利情報 |
Copyright © Japan Atherosclerosis Society 日本動脈硬化学会 |
| 著者版フラグ |
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|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
https://www.jstage.jst.go.jp/browse/jat/-char/en |
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関連名称 |
https://www.jstage.jst.go.jp/browse/jat/-char/en |
| 関連URI |
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識別子タイプ |
URI |
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関連識別子 |
http://www.j-athero.org/ |
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関連名称 |
http://www.j-athero.org/ |
ME-PR-YAMAGISHI-M-1.pdf (1.5 MB)
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