Results 71 to 80 of about 4,926 (176)

Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

Frontiers in Neurology, 2017
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen ...
Adriano M. de Assis, Adriano M. de Assis, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Gabriel Vasata Furtado, Tailise Conte Gheno, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Diogo Onofre Souza, Suzi Camey, Suzi Camey, Vanessa Bielefeldt Leotti, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Laura Bannach Jardim, Luis Valmor Portela, Luis Valmor Portela   +39 more
doaj   +1 more source

Neurofilament light chain is a promising serum biomarker in spinocerebellar ataxia type 3

Molecular Neurodegeneration, 2019
Background Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of autosomal dominantly inherited spinocerebellar ataxias (SCAs). No validated blood biomarker is available to assess either disease progression or therapeutic response ...
Quan-Fu Li, Yi Dong, Lu Yang, Juan-Juan Xie, Yin Ma, Yi-Chu Du, Hao-Ling Cheng, Wang Ni, Zhi-Ying Wu   +8 more
doaj   +1 more source

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

Molecular Neurodegeneration, 2018
Background Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by expansion of the polyglutamine repeat in the ataxin-3 protein.
Lodewijk J. A. Toonen, Maurice Overzier, Melvin M. Evers, Leticia G. Leon, Sander A. J. van der Zeeuw, Hailiang Mei, Szymon M. Kielbasa, Jelle J. Goeman, Kristina M. Hettne, Olafur Th. Magnusson, Marion Poirel, Alexandre Seyer, Peter A. C. ‘t Hoen, Willeke M. C. van Roon-Mom   +13 more
doaj   +1 more source

STUB1 (SCA48)/TBP (SCA17): A Frequent Association Still Not Fully Explained and a Lower Threshold for Intermediate Expanded TBP Alleles

Movement Disorders, Volume 41, Issue 7, Page 1661-1665, July 2026.
Cecilia Marelli, Quentin Charret, Cyril Goizet, Julien Thevenon, Virginie Bernard, Fabienne Ory Magne, Manon Degoutin, Patricia Fergelot, Mathilde Renaud, Michel Koenig, Francis Ramond   +10 more
wiley   +1 more source

Research on Mitochondrial DNA Mutations in Patients with SCA3/MJD [PDF]

, 2017
Abstract Spinocerebellar ataxia type 3 (SCA3) is a degenerative neurological disorders caused by trinucleotide repeat expansion within the ataxin-3 gene. It is characterized by multi-system involvement and diverse clinical phenotypes, which cannot be fully explained the length of the CAG repeats.
Liu, Zhen, Zhou, Jie, Yin, Xiaomeng, Shi, Shuying, Sun, Weining, Jiang, Hong, Shen, Lu, Tang, Beisha, Wang, Junling   +8 more
openaire   +1 more source

Depressive Symptoms in Machado-Joseph Disease (SCA3) Patients and Their Relatives

Public Health Genomics, 2006
<i>Objectives:</i> It was the aim of this study to determine the depression scores of Machado-Joseph disease (MJD) patients, their spouses, and individuals at 50% risk for MJD, and second, to verify the existence of a correlation between depressive symptoms and the degree of motor incapacitation. <i>Subjects and Methods:</i> Two
C R, Cecchin, A P, Pires, C R, Rieder, T L, Monte, I, Silveira, T, Carvalho, M L, Saraiva-Pereira, J, Sequeiros, L B, Jardim   +8 more
openaire   +2 more sources

RNA Expression Profile and Potential Biomarkers in Patients With Spinocerebellar Ataxia Type 3 From Mainland China

Frontiers in Genetics, 2019
Long non-coding RNAs (lncRNAs) play an important role in growth, development, and reproduction and undoubtedly contribute to the pathogenesis and progression of diseases.
Tianjiao Li, Xiaocan Hou, Zhao Chen, Yun Peng, Puzhi Wang, Yue Xie, Lang He, Hongyu Yuan, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang   +18 more
doaj   +1 more source

Gene-Related Cerebellar Neurodegeneration in SCA3/MJD: A Case-Controlled Imaging-Genetic Study

Frontiers in Neurology, 2019
Background: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of the nine polyglutamine (polyQ) diseases and is caused by a CAG repeat expansion within the coding sequence of the ATXN3 gene.
Huirong Peng, Xiaochun Liang, Zhe Long, Zhao Chen, Yuting Shi, Kun Xia, Li Meng, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Rong Qiu, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang   +19 more
doaj   +1 more source

Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3) patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among
Jing LI, Cheng ZHANG, Yi⁃xin ZHANG, Shan⁃wei FENG, Juan YANG, Ji⁃qing CAO, Chang⁃shun YU, Ya⁃qin LI, Yan⁃yun WANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Ling LIAO   +12 more
doaj  

Choroid plexus enlargement correlated with motor dysfunction in spinocerebellar ataxia type 3

Neurobiology of Disease
Objective: To investigate Choroid plexus (CP) structural changes using multimodal MRI, and assess the correlation between CP damage and motor dysfunction in SCA3 patients.
Zhiming Zhen, Peiling Ou, Yonghua Huang, Lihua Deng, Yue Chen, He Liu, Yanqiu Hua, Wei Chen, Huafu Chen, Peiyu Huang, Zhentao Zuo, Chen Liu   +11 more
doaj   +1 more source