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The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population.

作者信息

Mancuso Michelangelo, Nesti Claudia, Petrozzi Lucia, Orsucci Daniele, Frosini Daniela, Kiferle Lorenzo, Bonuccelli Ubaldo, Ceravolo Roberto, Murri Luigi, Siciliano Gabriele

出版信息

Parkinsonism Relat Disord. 2008;14(4):381-2. doi: 10.1016/j.parkreldis.2007.10.001. Epub 2007 Nov 13.

DOI:10.1016/j.parkreldis.2007.10.001
PMID:17993288
Abstract
摘要

相似文献

1
The mtDNA A8344G "MERRF" mutation is not a common cause of sporadic Parkinson disease in Italian population.线粒体DNA A8344G“肌阵挛性癫痫伴破碎红纤维病(MERRF)”突变并非意大利人群散发性帕金森病的常见病因。
Parkinsonism Relat Disord. 2008;14(4):381-2. doi: 10.1016/j.parkreldis.2007.10.001. Epub 2007 Nov 13.
2
Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.由tRNALys中A8344G突变(线粒体肌阵挛性癫痫伴破碎红纤维综合征)引起的帕金森综合征、神经病变和肌病。
Neurology. 2007 Jan 2;68(1):56-8. doi: 10.1212/01.wnl.0000250334.48038.7a.
3
Fibrous dysplasia in a child with mitochondrial A8344G mutation.一名患有线粒体A8344G突变的儿童的纤维性发育不良。
J Child Neurol. 2008 Dec;23(12):1447-50. doi: 10.1177/0883073808318541. Epub 2008 Sep 4.
4
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.靶向导入线粒体的核DNA编码的tRNA可挽救培养的人类细胞中与肌阵挛性癫痫伴破碎红纤维综合征(MERRF综合征)相关的线粒体DNA突变。
Hum Mol Genet. 2004 Oct 15;13(20):2519-34. doi: 10.1093/hmg/ddh267. Epub 2004 Aug 18.
5
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.线粒体肌阵挛性癫痫伴破碎红纤维(MERRF)突变A8344G患者的不典型表现。
Clin Neurol Neurosurg. 2008 Sep;110(8):859-63. doi: 10.1016/j.clineuro.2008.06.010. Epub 2008 Jul 26.
6
Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.线粒体脑肌病患者白细胞中线粒体DNA拷贝数的改变。
Acta Neurol Scand. 2006 May;113(5):334-41. doi: 10.1111/j.1600-0404.2006.00586.x.
7
The protective roles of phosphorylated heat shock protein 27 in human cells harboring myoclonus epilepsy with ragged-red fibers A8344G mtDNA mutation.携带肌阵挛癫痫伴破碎红纤维 A8344G 线粒体 DNA 突变的人细胞中磷酸化热休克蛋白 27 的保护作用。
FEBS J. 2012 Aug;279(16):2987-3001. doi: 10.1111/j.1742-4658.2012.08678.x. Epub 2012 Jul 23.
8
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.与肌阵挛性癫痫伴破碎红纤维综合征(MERRF)及多发性对称性脂肪瘤相关的线粒体DNA A8344G突变的发病机制方面
Muscle Nerve Suppl. 1995;3:S102-6. doi: 10.1002/mus.880181421.
9
Detection of known base substitution mutations in human mitochondrial DNA of MERRF and MELAS by biochip technology.利用生物芯片技术检测肌阵挛性癫痫伴破碎红纤维病(MERRF)和线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)患者人类线粒体DNA中的已知碱基置换突变。
Biosens Bioelectron. 2009 Apr 15;24(8):2371-6. doi: 10.1016/j.bios.2008.12.008. Epub 2008 Dec 9.
10
Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA.从一名患有肌阵挛性癫痫伴破碎红纤维综合征(MERRF)且线粒体DNA存在A8344G突变的15岁女性患者身上生成了两条同基因的人类诱导多能干细胞系。
Stem Cell Res. 2018 Jul;30:201-205. doi: 10.1016/j.scr.2018.05.011. Epub 2018 May 28.

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Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.线粒体帕金森病:基因与临床诊断实用指南。
Mov Disord Clin Pract. 2024 Aug;11(8):948-965. doi: 10.1002/mdc3.14148. Epub 2024 Jun 28.
2
Understanding the Multiple Role of Mitochondria in Parkinson's Disease and Related Disorders: Lesson From Genetics and Protein-Interaction Network.了解线粒体在帕金森病及相关疾病中的多重作用:来自遗传学和蛋白质相互作用网络的启示
Front Cell Dev Biol. 2021 Apr 1;9:636506. doi: 10.3389/fcell.2021.636506. eCollection 2021.
3
The molecular pathology of pathogenic mitochondrial tRNA variants.
致病性线粒体 tRNA 变异体的分子病理学。
FEBS Lett. 2021 Apr;595(8):1003-1024. doi: 10.1002/1873-3468.14049. Epub 2021 Feb 12.
4
Psoriasis, bulbar involvement, and diarrhea in late myoclonic epilepsy with ragged-red fibers-syndrome due to the m.8344A > G tRNA (Lys) mutation.由m.8344A>G tRNA(Lys)突变引起的伴有破碎红纤维综合征的晚发性肌阵挛性癫痫中的银屑病、球部受累和腹泻。
Iran J Neurol. 2017 Jan 5;16(1):45-49.
5
Tissue-specific implications of mitochondrial alterations in aging.线粒体改变在衰老过程中的组织特异性影响。
Front Biosci (Elite Ed). 2013 Jan 1;5(2):734-47. doi: 10.2741/e654.
6
POLG1-related and other "mitochondrial Parkinsonisms": an overview.POLG1 相关和其他“线粒体帕金森病”:概述。
J Mol Neurosci. 2011 May;44(1):17-24. doi: 10.1007/s12031-010-9488-9. Epub 2011 Jan 8.
7
Mitochondrial DNA sequence variation and neurodegeneration.线粒体DNA序列变异与神经退行性变
Hum Genomics. 2008 Sep;3(1):71-8. doi: 10.1186/1479-7364-3-1-71.