A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption
Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L.
American Association for the Advancement of Science (AAAS)
Published 2018
American Association for the Advancement of Science (AAAS)
Published 2018
| Publication Date: |
2018-06-08
|
|---|---|
| Publisher: |
American Association for the Advancement of Science (AAAS)
|
| Print ISSN: |
0036-8075
|
| Electronic ISSN: |
1095-9203
|
| Topics: |
Biology
Chemistry and Pharmacology
Geosciences
Computer Science
Medicine
Natural Sciences in General
Physics
|
| Keywords: |
Genetics, Medicine, Diseases
|
| Published by: |
| _version_ | 1839208084296171521 |
|---|---|
| autor | Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. |
| beschreibung | A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1 -deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. |
| citation_standardnr | 6279315 |
| datenlieferant | ipn_articles |
| feed_id | 25 |
| feed_publisher | American Association for the Advancement of Science (AAAS) |
| feed_publisher_url | http://www.aaas.org/ |
| insertion_date | 2018-06-08 |
| journaleissn | 1095-9203 |
| journalissn | 0036-8075 |
| publikationsjahr_anzeige | 2018 |
| publikationsjahr_facette | 2018 |
| publikationsjahr_intervall | 7984:2015-2019 |
| publikationsjahr_sort | 2018 |
| publisher | American Association for the Advancement of Science (AAAS) |
| quelle | Science |
| relation | http://science.sciencemag.org/cgi/content/short/360/6393/1087?rss=1 |
| schlagwort | Genetics, Medicine, Diseases |
| search_space | articles |
| shingle_author_1 | Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. |
| shingle_author_2 | Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. |
| shingle_author_3 | Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. |
| shingle_author_4 | Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. |
| shingle_catch_all_1 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption Genetics, Medicine, Diseases A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1 -deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. American Association for the Advancement of Science (AAAS) 0036-8075 00368075 1095-9203 10959203 |
| shingle_catch_all_2 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption Genetics, Medicine, Diseases A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1 -deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. American Association for the Advancement of Science (AAAS) 0036-8075 00368075 1095-9203 10959203 |
| shingle_catch_all_3 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption Genetics, Medicine, Diseases A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1 -deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. American Association for the Advancement of Science (AAAS) 0036-8075 00368075 1095-9203 10959203 |
| shingle_catch_all_4 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption Genetics, Medicine, Diseases A high concentration of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although LDL-C levels vary among humans and are heritable, the genetic factors affecting LDL-C are not fully characterized. We identified a rare frameshift variant in the LIMA1 (also known as EPLIN or SREBP3 ) gene from a Chinese family of Kazakh ethnicity with inherited low LDL-C and reduced cholesterol absorption. In a mouse model, LIMA1 was mainly expressed in the small intestine and localized on the brush border membrane. LIMA1 bridged NPC1L1, an essential protein for cholesterol absorption, to a transportation complex containing myosin Vb and facilitated cholesterol uptake. Similar to the human phenotype, Lima1 -deficient mice displayed reduced cholesterol absorption and were resistant to diet-induced hypercholesterolemia. Through our study of both mice and humans, we identify LIMA1 as a key protein regulating intestinal cholesterol absorption. Zhang, Y.-Y., Fu, Z.-Y., Wei, J., Qi, W., Baituola, G., Luo, J., Meng, Y.-J., Guo, S.-Y., Yin, H., Jiang, S.-Y., Li, Y.-F., Miao, H.-H., Liu, Y., Wang, Y., Li, B.-L., Ma, Y.-T., Song, B.-L. American Association for the Advancement of Science (AAAS) 0036-8075 00368075 1095-9203 10959203 |
| shingle_title_1 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| shingle_title_2 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| shingle_title_3 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| shingle_title_4 | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| timestamp | 2025-07-31T23:45:11.946Z |
| titel | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| titel_suche | A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption |
| topic | W V TE-TZ SQ-SU WW-YZ TA-TD U |
| uid | ipn_articles_6279315 |