The giant titin: how to evaluate its role in cardiomyopathies

被引：10

作者：

Azad, Amar ^{[1
,2
,3
]}

Poloni, Giulia ^{[1
,2
]}

Sontayananon, Naeramit ^{[1
,2
]}

Jiang, He ^{[1
,2
]}

Gehmlich, Katja ^{[1
,2
,4
]}

机构：

[1] Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford OX3 9DU, England

[2] Univ Oxford, British Heart Fdn, Ctr Res Excellence, Oxford OX3 9DU, England

[3] Swansea Univ, Med Sch, Swansea SA2 8PP, W Glam, Wales

[4] Univ Birmingham, Inst Cardiovasc Sci, Birmingham B15 2TT, W Midlands, England

来源：

JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY | 2019年 / 40卷 / 02期

基金：

英国惠康基金;

关键词：

Titin; Animal models; Induced pluripotent stem cell derived cardiomyocytes; CRISPR; Cas9; Genome-engineering; Cardiomyopathy; PLURIPOTENT STEM-CELLS; DILATED CARDIOMYOPATHY; REGION LEADS; MUTATIONS; GENE; PROTEINS; CARDIOMYOCYTES; CONTRACTION; SEQUENCE; EXON;

D O I：

10.1007/s10974-019-09518-w

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Titin, the largest protein known, has attracted a lot of interest in the cardiovascular field in recent years, since the discovery that truncating variants in titin are commonly found in patients with dilated cardiomyopathy. This review will discuss the contribution of variants in titin to inherited cardiac conditions (cardiomyopathies) and how model systems, such as animals and cellular systems, can help to provide insights into underlying disease mechanisms. It will also give an outlook onto exciting technological developments, such as in the field of CRISPR, which may facilitate future research on titin variants and their contributions to cardiomyopathies.

引用

页码：159 / 167

页数：9

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