Results 151 to 160 of about 4,884 (187)

Safety and efficacy of valproic acid treatment in SCA3/MJD patients

Parkinsonism and Related Disorders, 2016
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of 10 known polyglutamine (polyQ) diseases. In Drosophila and rat models of polyQ diseases, histone deacetylation (HDAC) inhibitors improved locomotor function and survival time by increasing histone acetylation levels and modulating gene expression.
Junling Wang, Guoping Yang, Weihong Song   +2 more
exaly   +3 more sources

Variation at the MJD locus in the major psychoses

American Journal of Medical Genetics, 1998
Expansion of triplet repeats has been seen to underlie several disorders that manifest anticipation. Clinical evidence suggests that anticipation occurs in the major psychoses. We studied the distribution of repeat sizes at the Machado-Joseph disease (MJD) locus in a group of patients with the major psychoses.
Saleem, Quasar, Vijayakumar, M, Mutsuddi, Mousumi, Chowdhary, Neerja, Jain, Sanjeev, Brahmachari, Samir K   +5 more
openaire   +2 more sources

MJD and OTU deubiquitinating enzymes in Schistosoma mansoni

Parasitology Research, 2015
The ubiquitination and deubiquitination of proteins can alter diverse cellular processes, such as proteolysis, trafficking, subcellular localisation, DNA repair, apoptosis and signal transduction. Deubiquitinating enzymes (DUBs) are responsible for removing ubiquitin from their target proteins.
Roberta Verciano, Pereira, Matheus de Souza, Gomes, Marcela Pereira, Costa, Liana Konovaloff Jannotti, Passos, William de Castro, Borges, Renata, Guerra-Sá   +5 more
openaire   +2 more sources

MicroRNA profiling in the serums of SCA3/MJD patients

International Journal of Neuroscience, 2013
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is the most common type of spinocerebellar ataxia in China. However, the pathogenesis of SCA3/MJD is still unknown. MicroRNAs (miRNAs) have been repeatedly demonstrated to exist in human peripheral serum in a bio-stable form and have been shown to be useful biomarkers for other ...
Yuting, Shi, Fengzhen, Huang, Beisha, Tang, Jiada, Li, Junling, Wang, Lu, Shen, Kun, Xia, Hong, Jiang   +7 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

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

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.
Kun Xia, Qian Xu, Xin Zhou
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
Ulrich Müller, Frank Leweke
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 ...
Junling Wang, Thomas Klockgether, Tetsuo Ashizawa   +2 more
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
Joana Pereira-Sousa, Jorge Diogo da Silva, Daniela Vilas Boas Da Silva Campos   +2 more
exaly   +3 more sources