Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?

被引：11
|
作者：
Emmel, V. E. [2 ]
Alonso, I. [3 ]
Jardim, L. B. [4 ]
Saraiva-Pereira, M. L. [1 ,2 ,5 ]
Sequeiros, J. [3 ]
机构：
[1] Hosp Clin Porto Alegre, Lab Identificacao Genet, Ctr Pesquisa Expt, Serv Genet Med, BR-90035903 Porto Alegre, RS, Brazil
[2] Univ Fed Rio Grande do Sul, Dept Genet, BR-90046900 Porto Alegre, RS, Brazil
[3] Univ Porto, UnIGENe, IBMC, Inst Mol & Cell Biol, Oporto, Portugal
[4] Univ Fed Rio Grande do Sul, Dept Med Interna, BR-90046900 Porto Alegre, RS, Brazil
[5] Univ Fed Rio Grande do Sul, Dept Bioquim, BR-90046900 Porto Alegre, RS, Brazil
来源：
CLINICAL GENETICS | 2011年 / 79卷 / 01期
关键词：
MACHADO-JOSEPH DISEASE;
D O I：
10.1111/j.1399-0004.2010.01508.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：100 / 102
页数：3
相关论文
共 50 条
  • [41] Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects
    Ferreira, Ana F.
    Raposo, Mafalda
    Vasconcelos, Joao
    Costa, Maria do Carmo
    Lima, Manuela
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2019, 69 (03) : 450 - 455
  • [42] Allele-specific silencing of mutant ATXN3 rescues motor deficits and neuropathology in a severely impaired mouse model of spinocerebellar ataxia type 3 (SCA3) upon intra-cisterna magna administration
    Silva, A. C.
    Henriques, C.
    Lobo, D. D.
    Fernandes, A. R.
    Lopes, M.
    Pereira, D.
    Duarte, S. P.
    Baganha, R.
    Lopes, S. M.
    Santana, M.
    Nobre, R. J.
    Pereira de Almeida, L.
    HUMAN GENE THERAPY, 2024, 35 (3-4) : A180 - A180
  • [43] Weight Loss and Increase Insulin Sensitivity in Early Stage Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Patients
    Saute, Jonas
    Russo, Aline
    Souza, Gabriele
    Moreira, Julia
    Muller, Alexandre
    Haas, Clarissa
    Torrez, Vitor
    Monte, Thais
    Castilhos, Raphael
    D'Avila, Rui
    Donis, Karina
    Schumacher-Schuh, Artur
    Saraiva-Pereira, Maria Luiza
    Souza, Diogo
    Portela, Luis Valmor
    Jardim, Laura
    NEUROLOGY, 2013, 80
  • [44] Comparison of the number of triplets in SCA1, MJD/SCA3, HD, SBMA, DRPLA, MD, FRAXA and FRDA genes in schizophrenic patients and a healthy population
    Culjkovic, B
    Stojkovic, O
    Savic, D
    Zamurovic, N
    Nesic, M
    Major, T
    Keckarevic, D
    Romac, S
    Zamurovic, B
    Vukosavic, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 96 (06): : 884 - 887
  • [45] Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
    Sandra Martins
    Christopher E. Pearson
    Paula Coutinho
    Sylvie Provost
    António Amorim
    Marie-Pierre Dubé
    Jorge Sequeiros
    Guy A. Rouleau
    Human Genetics, 2014, 133 : 1311 - 1318
  • [46] Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene
    Siqi Dong
    Dongqing Zhu
    Wenbo Yang
    Jiatong Li
    Xiangjun Chen
    Neurological Sciences, 2022, 43 : 6993 - 6995
  • [47] Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene
    Dong, Siqi
    Zhu, Dongqing
    Yang, Wenbo
    Li, Jiatong
    Chen, Xiangjun
    NEUROLOGICAL SCIENCES, 2022, 43 (12) : 6993 - 6995
  • [48] DNA methylation age acceleration is associated with age of onset in Chinese spinocerebellar ataxia type 3 patients
    Li, Jiahao
    Shu, Anli
    Sun, Yimin
    Yang, Wanli
    Tang, Xuelin
    Pu, Hongjiang
    Peng, Yun
    Hu, Xiaowen
    Qing, Ying
    Wang, Jian
    Wan, Chunling
    Zhou, Mingcheng
    Zhang, Ming
    NEUROBIOLOGY OF AGING, 2022, 113 : 1 - 6
  • [49] Generation of two induced pluripotent stem cell lines, GZHMCi009-A and GZHMCi010-A, derived from peripheral blood mononuclear cells of two SCA3 patients with 14/74 CAG repeats of the ATXN3 mutation
    Yang Yinghong
    Luo Qian
    Song Bing
    Xie Yingjun
    He Wenzhi
    Chen Bangzhu
    Sun Xiaofang
    STEM CELL RESEARCH, 2022, 61
  • [50] Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds
    Tang, BS
    Liu, CY
    Shen, L
    Dai, HP
    Pan, Q
    Jing, LJ
    Shan, QY
    Xia, JH
    ARCHIVES OF NEUROLOGY, 2000, 57 (04) : 540 - 544
12345