LRRK2基因的I2012T、G2019S和I2020T突变在台湾散发性帕金森病患者中较为罕见。 - Suppr

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.

作者信息

Lu Chin-Song, Simons Erik J, Wu-Chou Yah-Huei, Fonzo Alessio Di, Chang Hsiu-Chen, Chen Rou-Shayn, Weng Yi-Hsin, Rohé Christan F, Breedveld Guido J, Hattori Nobutaka, Gasser Thomas, Oostra Ben A, Bonifati Vincenzo

出版信息

Parkinsonism Relat Disord. 2005 Dec;11(8):521-2. doi: 10.1016/j.parkreldis.2005.09.003. Epub 2005 Oct 26.

DOI:10.1016/j.parkreldis.2005.09.003

PMID:16256409

Abstract

摘要

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The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.LRRK2基因的I2012T、G2019S和I2020T突变在台湾散发性帕金森病患者中较为罕见。

Parkinsonism Relat Disord. 2005 Dec;11(8):521-2. doi: 10.1016/j.parkreldis.2005.09.003. Epub 2005 Oct 26.

The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor.LRRK2基因的I2012T、G2019S和I2020T突变在特发性震颤患者中并不常见。

Neurosci Lett. 2006 Oct 23;407(2):97-100. doi: 10.1016/j.neulet.2006.08.012. Epub 2006 Aug 30.

LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies.台湾人群中家族性帕金森病的LRRK2突变：临床、PET及功能研究

J Biomed Sci. 2008 Sep;15(5):661-7. doi: 10.1007/s11373-008-9260-0. Epub 2008 Jun 4.

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?患有帕金森病的阿什肯纳兹犹太人中LRRK2基因G2019S突变：是否存在性别效应？

Neurology. 2007 Oct 16;69(16):1595-602. doi: 10.1212/01.wnl.0000277637.33328.d8.

Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease.在以北美为基础的家族性帕金森病样本中，除G2019S外，LRRK2基因的其他突变很少见。

Mov Disord. 2006 Dec;21(12):2257-60. doi: 10.1002/mds.21162.

Screening for LRRK2 mutations in patients with Parkinson's disease in Russia: identification of a novel LRRK2 variant.俄罗斯帕金森病患者中LRRK2突变的筛查：一种新型LRRK2变异体的鉴定

Eur J Neurol. 2008 Jul;15(7):692-6. doi: 10.1111/j.1468-1331.2008.02149.x. Epub 2008 Apr 24.

Clinical heterogeneity of the LRRK2 G2019S mutation.LRRK2基因G2019S突变的临床异质性。

Arch Neurol. 2006 Sep;63(9):1242-6. doi: 10.1001/archneur.63.9.1242.

Absence of commonly reported leucine-rich repeat kinase 2 mutations in Eastern Indian Parkinson's disease patients.东印度帕金森病患者中常见的富含亮氨酸重复激酶2突变缺失。

Genet Test Mol Biomarkers. 2010 Oct;14(5):691-4. doi: 10.1089/gtmb.2010.0054. Epub 2010 Aug 19.

A common leucine-rich repeat kinase 2 gene mutation in familial and sporadic Parkinson's disease in Russia.俄罗斯家族性和散发性帕金森病中常见的富含亮氨酸重复序列激酶2基因突变。

Eur J Neurol. 2007 Apr;14(4):413-7. doi: 10.1111/j.1468-1331.2007.01685.x.

Absence/rarity of commonly reported LRRK2 mutations in Indian Parkinson's disease patients.印度帕金森病患者中常见报道的LRRK2突变的缺失/罕见情况。

Neurosci Lett. 2006 Dec 1;409(2):83-8. doi: 10.1016/j.neulet.2006.04.052. Epub 2006 Oct 18.

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p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.p.L1795F LRRK2变异是中欧帕金森病的常见病因。

Res Sq. 2024 May 29:rs.3.rs-4378197. doi: 10.21203/rs.3.rs-4378197/v1.

Astrocytes Differentiated from LRRK2-I1371V Parkinson's-Disease-Induced Pluripotent Stem Cells Exhibit Similar Yield but Cell-Intrinsic Dysfunction in Glutamate Uptake and Metabolism, ATP Generation, and Nrf2-Mediated Glutathione Machinery.LRRK2-I1371V 帕金森病诱导多能干细胞分化的星形胶质细胞在谷氨酸摄取和代谢、ATP 生成以及 Nrf2 介导的谷胱甘肽机制方面表现出相似的产量，但存在细胞内功能障碍。

Cells. 2023 Jun 8;12(12):1592. doi: 10.3390/cells12121592.

Human Induced Pluripotent Stem Cell Phenotyping and Preclinical Modeling of Familial Parkinson's Disease.人类诱导多能干细胞表型分析及家族性帕金森病的临床前建模。

Genes (Basel). 2022 Oct 25;13(11):1937. doi: 10.3390/genes13111937.

Review of the epidemiology and variability of LRRK2 non-p.Gly2019Ser pathogenic mutations in Parkinson's disease.帕金森病中LRRK2非p.Gly2019Ser致病性突变的流行病学及变异性综述。

Front Neurosci. 2022 Sep 20;16:971270. doi: 10.3389/fnins.2022.971270. eCollection 2022.

Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.帕金森病遗传学进展：临床医生指南

Mov Disord Clin Pract. 2014 Apr 10;1(1):3-13. doi: 10.1002/mdc3.12000. eCollection 2014 Apr.

LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.LRRK2 基因突变在 ROCO 结构域的病理生理学和帕金森病的治疗靶点中的作用：综述。

J Biomed Sci. 2018 Jun 14;25(1):52. doi: 10.1186/s12929-018-0454-0.

Mutant LRRK2 mediates peripheral and central immune responses leading to neurodegeneration in vivo.突变 LRRK2 介导体内外周和中枢免疫反应，导致神经退行性变。

Brain. 2018 Jun 1;141(6):1753-1769. doi: 10.1093/brain/awy077.

Association of LRRK2 R1628P variant with Parkinson's disease in Ethnic Han-Chinese and subgroup population.LRRK2基因R1628P变异与中国汉族及亚组人群帕金森病的关联

Sci Rep. 2016 Nov 4;6:35171. doi: 10.1038/srep35171.

Type II kinase inhibitors show an unexpected inhibition mode against Parkinson's disease-linked LRRK2 mutant G2019S.II 型激酶抑制剂对帕金森病相关 LRRK2 突变体 G2019S 表现出一种意想不到的抑制模式。

Biochemistry. 2013 Mar 12;52(10):1725-36. doi: 10.1021/bi3012077. Epub 2013 Mar 1.

A study of six point mutation analysis of LRRK2 gene in Chinese mainland patients with Parkinson's disease.中国大陆帕金森病患者LRRK2基因六点突变分析的研究

Neurol Sci. 2011 Aug;32(4):741-2. doi: 10.1007/s10072-010-0453-8. Epub 2011 Jan 14.

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The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease.

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