由低密度脂蛋白受体家族性高胆固醇血症突变引起的蛋白质折叠和钙结合缺陷。 - Suppr

Suppr

超能文献

Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor.

作者信息

Blacklow S C, Kim P S

出版信息

Nat Struct Biol. 1996 Sep;3(9):758-62. doi: 10.1038/nsb0996-758.

DOI:10.1038/nsb0996-758

PMID:8784348

Abstract

摘要

相似文献

Protein folding and calcium binding defects arising from familial hypercholesterolemia mutations of the LDL receptor.由低密度脂蛋白受体家族性高胆固醇血症突变引起的蛋白质折叠和钙结合缺陷。

Nat Struct Biol. 1996 Sep;3(9):758-62. doi: 10.1038/nsb0996-758.

Solution structure of the sixth LDL-A module of the LDL receptor.低密度脂蛋白受体第六个低密度脂蛋白-A模块的溶液结构

Biochemistry. 2000 Mar 14;39(10):2564-71. doi: 10.1021/bi992087a.

Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.

Biochim Biophys Acta. 1993 Aug 4;1182(1):75-82. doi: 10.1016/0925-4439(93)90156-u.

NMR structure and backbone dynamics of a concatemer of epidermal growth factor homology modules of the human low-density lipoprotein receptor.人低密度脂蛋白受体表皮生长因子同源模块串联体的核磁共振结构与主链动力学

J Mol Biol. 2001 Aug 10;311(2):341-56. doi: 10.1006/jmbi.2001.4867.

The role of a conserved acidic residue in calcium-dependent protein folding for a low density lipoprotein (LDL)-A module: implications in structure and function for the LDL receptor superfamily.一个保守酸性残基在低密度脂蛋白（LDL）-A模块的钙依赖性蛋白折叠中的作用：对LDL受体超家族结构和功能的影响。

J Biol Chem. 2004 Apr 16;279(16):16629-37. doi: 10.1074/jbc.M400157200. Epub 2004 Jan 27.

Evidence that familial hypercholesterolemia mutations of the LDL receptor cause limited local misfolding in an LDL-A module pair.

Biochemistry. 2000 Oct 31;39(43):13127-35. doi: 10.1021/bi0015156.

Computational diagnosis of protein conformational diseases: short molecular dynamics simulations reveal a fast unfolding of r-LDL mutants that cause familial hypercholesterolemia.蛋白质构象疾病的计算诊断：短分子动力学模拟揭示导致家族性高胆固醇血症的r-LDL突变体快速展开。

Proteins. 2007 Jan 1;66(1):87-95. doi: 10.1002/prot.21181.

Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia.

Hum Genet. 1995 Aug;96(2):241-2. doi: 10.1007/BF00207391.

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X.

Hum Mutat. 2001 Apr;17(4):354. doi: 10.1002/humu.44.

[Molecular genetic causes of familial hypercholesterolemia].

Tidsskr Nor Laegeforen. 1993 Oct 30;113(26):3251-4.

引用本文的文献

Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.在患有家族性高胆固醇血症的泰国家庭中鉴定出一种新型 LDLR p.Glu179Met 变异体以及对 PCSK9 抑制剂治疗的反应。

Sci Rep. 2024 Mar 21;14(1):6785. doi: 10.1038/s41598-024-57069-z.

Mechanistic and structural studies reveal NRAP-1-dependent coincident activation of NMDARs.机制和结构研究揭示了 NRAP-1 依赖性的 NMDAR 同时激活。

Cell Rep. 2024 Feb 27;43(2):113694. doi: 10.1016/j.celrep.2024.113694. Epub 2024 Jan 23.

Exonic splicing code and protein binding sites for calcium.钙的外显子剪接码和蛋白质结合位点。

Nucleic Acids Res. 2022 Jun 10;50(10):5493-5512. doi: 10.1093/nar/gkac270.

Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.利用同源建模研究 LDL 受体错义突变的结构-功能关系。

Protein J. 2019 Aug;38(4):447-462. doi: 10.1007/s10930-019-09860-5.

Vitellogenin Receptor as a Target for Tick Control: A Mini-Review.作为蜱虫控制靶点的卵黄原蛋白受体：一篇综述

Front Physiol. 2019 May 21;10:618. doi: 10.3389/fphys.2019.00618. eCollection 2019.

Molecular characterization of the lipophorin receptor in the crustacean ectoparasite Lepeophtheirus salmonis.甲壳动物外寄生虫鲑鱼虱中脂磷蛋白受体的分子特征。

PLoS One. 2018 Apr 12;13(4):e0195783. doi: 10.1371/journal.pone.0195783. eCollection 2018.

Identification of roles for H264, H306, H439, and H635 in acid-dependent lipoprotein release by the LDL receptor.鉴定H264、H306、H439和H635在低密度脂蛋白受体依赖酸的脂蛋白释放中的作用。

J Lipid Res. 2017 Feb;58(2):364-374. doi: 10.1194/jlr.M070938. Epub 2016 Nov 28.

Molecular Characterization of Vitellogenin and Vitellogenin Receptor of Bemisia tabaci.烟粉虱卵黄原蛋白和卵黄原蛋白受体的分子特征

PLoS One. 2016 May 9;11(5):e0155306. doi: 10.1371/journal.pone.0155306. eCollection 2016.

Initiating protease with modular domains interacts with β-glucan recognition protein to trigger innate immune response in insects.具有模块化结构域的起始蛋白酶与β-葡聚糖识别蛋白相互作用，以触发昆虫的先天免疫反应。

Proc Natl Acad Sci U S A. 2015 Nov 10;112(45):13856-61. doi: 10.1073/pnas.1517236112. Epub 2015 Oct 26.

An A1-A1 mutant with improved binding and inhibition of β2GPI/antibody complexes in antiphospholipid syndrome.抗磷脂综合征中具有改善的结合和抑制β2GPI/抗体复合物能力的 A1-A1 突变体。

FEBS J. 2015 Mar;282(5):864-73. doi: 10.1111/febs.13185. Epub 2015 Jan 27.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验