结蛋白头部结构域变体对细丝组装的功能影响。 - Suppr

Functional impact of the head domain variants of (Desmin) on filament assembly.

作者信息

Voß Sabrina, Walhorn Volker, Holler Stephanie, Gärtner Anna, Pohl Greta, Tiesmeier Jens, Gummert Jan, Anselmetti Dario, Milting Hendrik, Brodehl Andreas

机构信息

Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, Bad Oeynhausen D-32545, Germany.

Experimental Biophysics & Applied Nanoscience, Faculty of Physics, Bielefeld University, Universitätsstrasse 25, Bielefeld 33615, Germany.

出版信息

Genes Dis. 2024 Feb 2;12(1):101238. doi: 10.1016/j.gendis.2024.101238. eCollection 2025 Jan.

DOI:10.1016/j.gendis.2024.101238

PMID:39650696

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11620975/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a667/11620975/259abfa4e68a/gr1.jpg

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Functional impact of the head domain variants of (Desmin) on filament assembly.结蛋白头部结构域变体对细丝组装的功能影响。

Genes Dis. 2024 Feb 2;12(1):101238. doi: 10.1016/j.gendis.2024.101238. eCollection 2025 Jan.

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic Mutations Affecting Filament Assembly.结蛋白 1A 结构域的 N 端部分是潜在致病性突变影响纤维组装的热点区域。

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Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.该新型 DES 突变 p.L136P 与扩张型心肌病相关，其功能特征研究揭示了一个显性的纤维丝组装缺陷。

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Phenotypic Diversity Caused by the Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.错义突变p.R127P（c.380G>C）导致的表型多样性，与结蛋白丝组装缺陷相关的严重心脏死亡率和发病率有关。

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Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.新型α-螺旋杆状结构区结蛋白（DES）致病性变异与扩张型心肌病、房室传导阻滞及发生心源性猝死风险的功能特征研究。

Int J Cardiol. 2021 Apr 15;329:167-174. doi: 10.1016/j.ijcard.2020.12.050. Epub 2020 Dec 26.

Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.疾病突变会明显改变细胞骨架蛋白结蛋白“头部”结构域的组装和网络形成特性。

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The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.新型结蛋白突变体p.A120D损害细丝形成，阻止闰盘定位，并导致心源性猝死。

Circ Cardiovasc Genet. 2013 Dec;6(6):615-23. doi: 10.1161/CIRCGENETICS.113.000103. Epub 2013 Nov 7.

Impact of disease mutations on the desmin filament assembly process.疾病突变对结蛋白丝组装过程的影响。

J Mol Biol. 2006 Jul 28;360(5):1031-42. doi: 10.1016/j.jmb.2006.05.068. Epub 2006 Jun 16.

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin () Mutation p.Y122H Leading to a Severe Filament Assembly Defect.限制型心肌病是由新型致病变异导致的，该变异为desmin()基因纯合突变 p.Y122H，导致严重的纤维丝组装缺陷。

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Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.非致密性心肌病是由 1A 卷曲螺旋杆段内的肌联蛋白（DES）新型框内缺失突变引起的，导致严重的细丝组装缺陷。

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Cells. 2022 Dec 2;11(23):3906. doi: 10.3390/cells11233906.

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.与结蛋白（DES）突变相关的心肌病的分子见解。

Biophys Rev. 2018 Aug;10(4):983-1006. doi: 10.1007/s12551-018-0429-0. Epub 2018 Jun 20.

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages.导致严重肌肉疾病的结蛋白突变在不同阶段干扰体外细丝组装。

Proc Natl Acad Sci U S A. 2005 Oct 18;102(42):15099-104. doi: 10.1073/pnas.0504568102. Epub 2005 Oct 10.

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.结蛋白肌病，一种由结蛋白基因突变引起的伴有心肌病的骨骼肌病。

N Engl J Med. 2000 Mar 16;342(11):770-80. doi: 10.1056/NEJM200003163421104.

Intermediate filament forming ability of desmin derivatives lacking either the amino-terminal 67 or the carboxy-terminal 27 residues.缺乏氨基末端67个残基或羧基末端27个残基的结蛋白衍生物形成中间丝的能力。

J Mol Biol. 1985 Oct 20;185(4):733-42. doi: 10.1016/0022-2836(85)90058-0.

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Functional impact of the head domain variants of (Desmin) on filament assembly.

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