Results 201 to 210 of about 6,741 (226)

Investigation on modulation of DNA repair pathways in Chinese MJD patients

Neurobiology of Aging, 2018
It has been reported that DNA repair pathways could modify age at onset (AO) in Huntington disease (HD) and spinocerebellar ataxias. We genotyped 22 SNPs from DNA repair pathways in a large cohort of 798 Chinese Machado-Joseph disease patients to investigate the association with AO, and no significant finding was observed.
Chunrong, Wang, Zhao, Chen, Huirong, Peng, Yun, Peng, Xin, Zhou, Huihua, Yang, Puzhi, Wang, Tianjiao, Li, Xiaocan, Hou, Rong, Qiu, Kun, Xia, Jorge, Sequeiros, Beisha, Tang, Hong, Jiang   +13 more
openaire   +2 more sources

Profiling of mitochondrial genomes in SCA3/MJD patients from mainland China

Gene, 2020
Spinocerebellar ataxia type 3, also known as Machado-Joseph disease (SCA3/MJD), is the most common type of autosomal dominant cerebellar ataxias. Few studies focused on the changes of the whole mitochondrial genomes of SCA3/MJD patients and its relationship with the pathogenesis of SCA3/MJD.
Hongyu Yuan, Huihua Yang, Linliu Peng, Yun Peng, Zhao Chen, Linlin Wan, Chunrong Wang, Yuting Shi, Victor Wei Zhang, Beisha Tang, Rong Qiu, Hong Jiang   +11 more
openaire   +2 more sources

A new humanized ataxin-3 knock-in mouse model combines the genetic features, pathogenesis of neurons and glia and late disease onset of SCA3/MJD

Neurobiology of Disease, 2015
Spinocerebellar ataxia type 3 (SCA3/MJD) is a neurodegenerative disease triggered by the expansion of CAG repeats in the ATXN3 gene. Here, we report the generation of the first humanized ataxin-3 knock-in mouse model (Ki91), which provides insights into ...
Pawel M Świtoński, Wojciech J Szlachcic, Wlodzimierz J Krzyzosiak   +2 more
exaly   +2 more sources

Alteration of methylation status in the ATXN3 gene promoter region is linked to the SCA3/MJD

Neurobiology of Aging, 2017
DNA methylation has been acknowledged as one of the key epigenetic mechanisms involved in the regulation of gene expression and genomic functions. Alteration of the DNA methylation level has been linked to modification of the disease progression and instability regulation of certain disease-causing repeats in neurodegenerative diseases.
Huirong Peng, Dongxue Ding, Zhe Long
exaly   +3 more sources

High Serum GFAP Levels in SCA3/MJD May Not Correlate with Disease Progression

Cerebellum, 2015
Spinocerebellar ataxia type 3(SCA3), also known as Machado-Joseph disease (MJD), is the most frequent subtype of autosomal dominant inherited spinocerebellar ataxias, which caused by the expansion of CAG repeats in the ATXN3 gene. The number of CAG repeats of the abnormal allele determines the rate of disease progression in patients with SCA3/MJD ...
Yuting Shi, Fengzhen Huang, Junling Wang   +2 more
exaly   +3 more sources

Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)

Journal of the Neurological Sciences, 1995
Spinocerebellar ataxia, type 3 (SCA3) and Machado-Joseph disease (MJD) are two clinically distinct representatives of the heterogeneous group of autosomal dominant cerebellar ataxias. Assignment of the disease genes to the same region of the long arm of chromosome 14 in both SCA3 and MJD suggested that these two disorders are genetically identical. The
Frank Leweke
exaly   +3 more sources

Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3

Mechanisms of Ageing and Development
Aging is a natural biological process, but evidence suggests that some aspects of aging can be delayed and reduce the prevalence of neurodegenerative diseases, for which aging is a key risk factor. In a neuronal Caenorhabditis elegans model of a Polyglutamine disease-Spinocerebellar Ataxia Type 3 (SCA3), or Machado-Joseph disease (MJD)- we assessed the
Marta D Costa, Jorge Diogo da Silva, Joana Pereira-Sousa   +2 more
exaly   +3 more sources

Spin labeling artery method perfusion MRI study of SPG4 and SCA3/MJD

Magnetic Resonance Imaging, 2014
Spinocerebellar ataxia type 3 (SCA3) and Machado-Joseph disease (MJD) are similar diseases that are often referred to jointly as SCA3/MJD. As the most common autosomal-dominantly inherited subtype of hereditary spastic paraplegia (HSP), HSP4 (or SPG4) has overlapping symptoms with SCA3/MJD, which hinders their diagnoses. Arterial spin labeling (ASL) is
Wu, Xing, Xiao-yi, Wang, Xin-xin, Liao, Wei-hua, Liao, Lu, Shen   +4 more
openaire   +2 more sources

The human MJD gene: genomic structure and functional characterization of the promoter region

Gene, 2003
Machado-Joseph disease (MJD) is a progressive neurodegenerative disorder caused by expansion of a CAG motif within the translated region of the human MJD (hMJD) gene which has been mapped to chromosome 14q. In this study, the hMJD gene was identified in two overlapping bacterial artificial chromosome (BAC) clones and contained 11 exons resulting in a 6.
Ina, Schmitt, Bernd O, Evert, Hassan, Khazneh, Thomas, Klockgether, Ullrich, Wuellner   +4 more
openaire   +2 more sources

The Shortest Expanded Allele of the MJD1 Gene in a Chinese MJD Kindred with Autonomic Dysfunction

European Neurology, 2004
Machado-Joseph disease (MJD) is the most common type of autosomal dominant spinocerebellar ataxia caused by an expanded CAG repeat in the MJD1 gene. Intermediate CAG alleles have been previously described, and they tend to be associated with unusual manifestations of the nervous system. Here we describe a Chinese kindred with hereditary spinocerebellar
Weihong, Gu, Huizi, Ma, Kang, Wang, Miao, Jin, Yongxing, Zhou, Xingzhou, Liu, Guoxiang, Wang, Yan, Shen   +7 more
openaire   +2 more sources