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Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease.

作者信息

Skov Martin, Dirksen Robert T

机构信息

Department of Biomedicine, Aarhus University, 8000 Aarhus, Denmark

Department of Pharmacology and Physiology, University of Rochester, Rochester, NY 14642

出版信息

J Gen Physiol. 2017 Jan;149(1):49-53. doi: 10.1085/jgp.201611728. Epub 2016 Dec 9.

DOI:10.1085/jgp.201611728
PMID:27940949
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5217092/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca9a/5217092/1971698bc760/JGP_201611728_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca9a/5217092/1971698bc760/JGP_201611728_Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca9a/5217092/1971698bc760/JGP_201611728_Fig1.jpg

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本文引用的文献

1
Progressive Cl- channel defects reveal disrupted skeletal muscle maturation in R6/2 Huntington's mice.进行性氯离子通道缺陷揭示了R6/2亨廷顿病小鼠骨骼肌成熟的破坏。
J Gen Physiol. 2017 Jan;149(1):55-74. doi: 10.1085/jgp.201611603. Epub 2016 Nov 29.
2
Targeting CAG repeat RNAs reduces Huntington's disease phenotype independently of huntingtin levels.靶向CAG重复RNA可独立于亨廷顿蛋白水平减轻亨廷顿舞蹈病的表型。
J Clin Invest. 2016 Nov 1;126(11):4319-4330. doi: 10.1172/JCI83185. Epub 2016 Oct 10.
3
RNA toxicity induced by expanded CAG repeats in Huntington's disease.
亨廷顿舞蹈病中由CAG重复序列扩增引起的RNA毒性。
Brain Pathol. 2016 Nov;26(6):779-786. doi: 10.1111/bpa.12427.
4
Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle.生理性氯离子通道ClC-1调节对骨骼肌工作时的兴奋性和功能的作用。
J Gen Physiol. 2016 Apr;147(4):291-308. doi: 10.1085/jgp.201611582.
5
Skeletal muscle pathology in Huntington's disease.亨廷顿病的骨骼肌病理学。
Front Physiol. 2014 Oct 6;5:380. doi: 10.3389/fphys.2014.00380. eCollection 2014.
6
A brief history of triplet repeat diseases.三联体重复疾病简史。
Methods Mol Biol. 2013;1010:3-17. doi: 10.1007/978-1-62703-411-1_1.
7
Huntington disease skeletal muscle is hyperexcitable owing to chloride and potassium channel dysfunction.亨廷顿舞蹈病患者的骨骼肌由于氯离子和钾离子通道功能障碍而表现出过度兴奋。
Proc Natl Acad Sci U S A. 2013 May 28;110(22):9160-5. doi: 10.1073/pnas.1220068110. Epub 2013 May 13.
8
Relationship between membrane Cl- conductance and contractile endurance in isolated rat muscles.分离大鼠肌肉中膜 Cl-电导与收缩耐力的关系。
J Physiol. 2013 Jan 15;591(2):531-45. doi: 10.1113/jphysiol.2012.243246. Epub 2012 Oct 8.
9
A pathogenic mechanism in Huntington's disease involves small CAG-repeated RNAs with neurotoxic activity.亨廷顿病的一种致病机制涉及具有神经毒性活性的小 CAG 重复 RNA。
PLoS Genet. 2012;8(2):e1002481. doi: 10.1371/journal.pgen.1002481. Epub 2012 Feb 23.
10
CAG repeats mimic CUG repeats in the misregulation of alternative splicing.CAG 重复序列在可变剪接的失调中模拟了 CUG 重复序列。
Nucleic Acids Res. 2011 Nov 1;39(20):8938-51. doi: 10.1093/nar/gkr608. Epub 2011 Jul 27.