Altered actin affinity - a possible disease-causing mechanism in NEB-related nemaline myopathy

Lehtonen J.; Laitila J.; Lehtokari V.; Gronholm M.; Wallgren-Pettersson C.; Pelin K.

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Altered actin affinity - a possible disease-causing mechanism in NEB-related nemaline myopathy

机译：改变肌动蛋白亲和力 - 在NeB相关的Nemaline肌病中可能的疾病导致机制

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来源
《Neuromuscular disorders: NMD》 |2017年第2期|共1页
作者
Lehtonen J.; Laitila J.; Lehtokari V.; Gronholm M.; Wallgren-Pettersson C.; Pelin K.;
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作者单位

Folkhalsan Inst Genet Helsinki Finland;

Folkhalsan Inst Genet Helsinki Finland;

Folkhalsan Inst Genet Helsinki Finland;

Univ Helsinki Helsinki Finland;

Folkhalsan Inst Genet Helsinki Finland;

Univ Helsinki Helsinki Finland;

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正文语种 eng
中图分类神经病学;
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专利

1. Altered actin affinity - a possible disease-causing mechanism in NEB-related nemaline myopathy [J] . Lehtonen J., Laitila J., Lehtokari V., Neuromuscular disorders: NMD . 2017,第Suppla2期

机译：改变肌动蛋白亲和力 - 在NeB相关的Nemaline肌病中可能的疾病导致机制
2. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. [J] . Ilkovski B, Nowak KJ, Domazetovska A, Human Molecular Genetics . 2004,第16期

机译：由异常肌动蛋白同工型异常折叠，聚集和聚合反应引起的ACTA1肾病肌病显性负作用的证据。
3. Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding [J] . Moraczewska Joanna, Robaszkiewicz Katarzyna, Sliwinska Magorzata, The FEBS journal . 2019,第10期

机译：通过改变肌动蛋白亲和力和刺激素结合，通过改变肌动蛋白亲和力和刺激素结合而破坏调节功能的先天性肌病相关突变
4. Extremely Low Frequency Electromagnetic Stimulation Alters Osteoblast Actin Filament Morphology [C] . A.-M. Bique, T. Keskinen, M. Paulasto-Krockel World Congress on Electroporation and Pulsed Electric Fields in Biology, Medicine and Food Environmental Technologies . 2016

机译：极低频率电磁刺激改变了骨盆肌动蛋白长丝形态
5. The Development of Beta-Actin Mutants with Altered Binding Affinities for ATP and ADP [D] . Kuyateh, Abu-Bakarr 2018

机译：β-肌动蛋白突变体对ATP和ADP的结合亲和力发生了变化
6. Actin Nemaline Myopathy Mouse Reproduces Disease Suggests Other Actin Disease Phenotypes and Provides Cautionary Note on Muscle Transgene Expression [O] . Gianina Ravenscroft, Connie Jackaman, Caroline A. Sewry, 2011

机译：肌动蛋白杆状体肌病鼠标再现疾病顾名思义其他肌动蛋白的疾病表型并提供有关肌肉转基因表达的警示说明
7. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms [O] . Ilkovski, Biljana, Nowak, Kristen J., Domazetovska, Ana, 2017

机译：突变肌动蛋白同工型异常折叠，聚集和聚合反应引起的ACTA1肾病肌病显性负作用的证据

Altered actin affinity - a possible disease-causing mechanism in NEB-related nemaline myopathy

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