LMOD3: the "missing link" in nemaline myopathy?
作者信息
Sandaradura Sarah, North Kathryn N
机构信息
Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead and Discipline of Paediatrics and Child Health, University of Sydney, New South Wales, Australia.
Murdoch Children's Research Institute, The Royal Children's Hospital and Department of Paediatrics, University of Melbourne, Victoria, Australia.
出版信息
Oncotarget. 2015 Sep 29;6(29):26548-9. doi: 10.18632/oncotarget.5267.
Abstract
摘要
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Oncotarget. 2015 Sep 29;6(29):26548-9. doi: 10.18632/oncotarget.5267.
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本文引用的文献
1
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.缺乏雷奥莫定-3的小鼠表现出伴有快肌纤维萎缩的杆状体肌病。
Dis Model Mech. 2015 Jun;8(6):635-41. doi: 10.1242/dmm.019430. Epub 2015 Apr 16.
2
Severe myopathy in mice lacking the MEF2/SRF-dependent gene leiomodin-3.缺乏MEF2/SRF依赖性基因平滑肌动蛋白-3的小鼠中的严重肌病
J Clin Invest. 2015 Apr;125(4):1569-78. doi: 10.1172/JCI80115. Epub 2015 Mar 16.
3
Leiomodin 3 and tropomodulin 4 have overlapping functions during skeletal myofibrillogenesis.雷奥莫定3和原肌球蛋白4在骨骼肌肌原纤维形成过程中具有重叠功能。
J Cell Sci. 2015 Jan 15;128(2):239-50. doi: 10.1242/jcs.152702. Epub 2014 Nov 27.
4
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.雷奥莫定-3功能障碍导致细肌丝紊乱和杆状体肌病。
J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24.
5
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy.KLHL40基因缺陷会使细肌丝蛋白不稳定，并引发杆状体肌病。
J Clin Invest. 2014 Aug;124(8):3529-39. doi: 10.1172/JCI74994. Epub 2014 Jun 24.
6
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.KLHL40 基因突变是常染色体隐性遗传肌病的一个常见原因。
Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.
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