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PTBP1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis

机译：PTBP1作为遗传性肌病伴乳酸性酸中毒的ISCU异常组织特异性剪接的主要抑制因子

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摘要

BackgroundHereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intron mutation in the iron‐sulfur cluster assembly (ISCU) gene. The mutation results in aberrant splicing, where part of the intron is retained in the final mRNA transcript, giving rise to a truncated nonfunctional ISCU protein. Using an ISCU mini‐gene system, we have previously shown that PTBP1 can act as a repressor of the mis‐splicing of ISCU, where overexpression of PTBP1 resulted in a decrease of the incorrect splicing. In this study, we wanted to, in more detail, analyze the role of PTBP1 in the regulation of endogenous ISCU mis‐splicing.

机译：背景患有乳酸性酸中毒（HML）的遗传性肌病是一种常染色体隐性疾病，由铁硫簇装配（ISCU）基因的内含子突变引起。突变导致异常剪接，其中部分内含子保留在最终的mRNA转录物中，从而导致截短的无功能ISCU蛋白。使用ISCU微型基因系统，我们以前已经证明PTBP1可以作为ISCU错接的阻遏物，其中PTBP1的过表达导致不正确剪接的减少。在这项研究中，我们想更详细地分析PTBP1在调节内源性ISCU错接中的作用。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Denise F. R. Rawcliffe; Lennart Österman; Angelica Nordin; Monica Holmberg;
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作者单位

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年(卷),期 2018(6),6
年度 2018
页码 887–897
总页数 11
原文格式 PDF
正文语种
中图分类遗传学;
关键词
alternative splicing hereditary myopathy ISCU PTBP1;

机译：选择性剪接;遗传性肌病;ISCU;PTBP1;

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专利

1. Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice. [J] . Nordin A, Larsson E, Thornell LE, Human Genetics . 2011,第4期

机译：ISCU的组织特异性剪接会导致乳酸性酸中毒肌病的骨骼肌表型，而ISCU的完全丧失会导致小鼠早期胚胎死亡。
2. Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice [J] . Angelica Nordin, Elin Larsson, Lars-Eric Thornell, Human Genetics . 2011,第4期

机译：ISCU的组织特异性剪接导致乳酸性酸中毒肌病的骨骼肌表型，而ISCU的完全丧失导致小鼠早期胚胎死亡。
3. The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1 [J] . NordinA., LarssonE., HolmbergM. Human mutation . 2012,第3期

机译：乳酸性酸中毒肌病患者由ISCU内含子突变引起的有缺陷的剪接被PTBP1抑制，但可以被IGF2BP1抑制。
4. Mining of cis-Regulatory Motifs Associated with Tissue-Specific Alternative Splicing [C] . Jihye Kim, rnSihui Zhao, rnBrian E. Howard, Bioinformatics research and applications . 2009

机译：与组织特定的选择性剪接相关的顺式调控基元的挖掘
5. Mining of cis-regulatory motifs associated with tissue-specific alternative splicing. [D] . Kim, Jihye. 2009

机译：挖掘与组织特异性替代剪接相关的顺式调控基序。
6. Aberrant iron homeostasis oxidative fiber enrichment and activation of ketogenesis in muscle tissue of ISCU Myopathy patients [O] . Daniel R Crooks, Thanemozhi G Natarajan, Churning Chen, 2012

机译：ISCU肌病患者肌肉组织中的铁稳态异常氧化纤维富集和生酮激活
7. Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect [O] . A. Olsson, L. Lind, L.-E. Thornell, 2008

机译：乳酸酸中毒的肌病与染色体12Q23.3-24.11连接，并由ISCU基因中的内含子突变引起，导致剪接缺陷

PTBP1 acts as a dominant repressor of the aberrant tissue‐specific splicing of ISCU in hereditary myopathy with lactic acidosis

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