Results 61 to 70 of about 4,926 (176)

Induced pluripotent stem cell - derived neurons for the study of spinocerebellar ataxia type 3

Stem Cell Research, 2016
The neurodegenerative disease spinocerebellar ataxia type 3 (SCA3) is caused by a CAG-repeat expansion in the ATXN3 gene. In this study, induced pluripotent stem cell (iPSC) lines were established from two SCA3 patients.
Susanne K. Hansen, Tina C. Stummann, Helena Borland, Lis F. Hasholt, Zeynep Tümer, Jørgen E. Nielsen, Mikkel A. Rasmussen, Troels T. Nielsen, Justus C.A. Daechsel, Karina Fog, Poul Hyttel   +10 more
doaj   +1 more source

Mapping the Disrupted Connectome in Spinocerebellar Ataxia Type 3: A Network‐Based Statistics Study Identifying Novel Therapeutic Targets for Neuromodulation

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
This study identifies a dual pattern of structural and functional connectome disruption in SCA3 that correlates with clinical severity. Importantly, these abnormal structural connectivities are modulated by TMS, establishing them as promising imaging biomarkers and therapeutic targets for precision neuromodulation intervention.
Lan Ou, Chaoyang Zhou, Xingang Wang, Linfeng Shi, Peiling Ou, Chaodong Xiang, Hui Chen, Xi Chen, Bijia Wang, Wei Chen, Jian Wang, Zhiliang Long, Chen Liu   +12 more
wiley   +1 more source

Pathomechanism characterization and potential therapeutics identification for SCA3 targeting neuroinflammation

Aging, 2020
Polyglutamine (polyQ)-mediated spinocerebellar ataxias (SCA) are caused by mutant genes with expanded CAG repeats encoding polyQ tracts. The misfolding and aggregation of polyQ proteins result in increased reactive oxygen species (ROS) and cellular toxicity.
Chiu, Ya-Jen, Lin, Shu-An, Chen, Wan-Ling, Lin, Te-Hsien, Lin, Chih-Hsin, Yao, Ching-Fa, Lin, Wenwei, Wu, Yih-Ru, Chang, Kuo-Hsuan, Lee-Chen, Guey-Jen, Chen, Chiung-Mei   +10 more
openaire   +2 more sources

Mesenchymal Stem Cell‐Based Therapy for Cerebellar Ataxia: From Bench to Bedside

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
Allogeneic hMSCs transplanted across LPS, Ara‐C, and SCA2 cerebellar ataxia (CA) models suppress neuroinflammation and restore the neurotrophin axis, collectively preserving Purkinje cell integrity. These preclinical findings are being translated clinically, from a first‐in‐human case report to an ongoing Phase II/III randomized trial (NCT02540655 ...
Kyoungho Suk, Ho‐Won Lee, Sang Ryong Kim   +2 more
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, Volume 41, Issue 7, Page 1836-1846, July 2026.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients

The Cerebellum, 2020
Spinocerebellar ataxias type 3 (SCA3) and type 10 (SCA10) are the most prevalent in southern Brazil. To analyze the relationships between volumetric MRI changes and clinical and genetic findings in SCA3 and SCA10 patients. All patients in the study had a confirmed genetic diagnosis.
Walter Oleschko Arruda, Alex Tiburtino Meira, Sergio Eiji Ono, Arnolfo de Carvalho Neto, Luiz Eduardo Gomes Garcia Betting, Salmo Raskin, Carlos Henrique F. Camargo, Hélio Afonso Ghizoni Teive   +7 more
openaire   +4 more sources

Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3

Frontiers in Neurology, 2019
Objectives: Our study attempted to systematically explore the prevalence of extra-cerebellar signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime sleepiness (EDS) and sleep disturbances in a cohort of Chinese patients ...
Xiaoqin Yuan, Ruwei Ou, Yanbing Hou, Xueping Chen, Bei Cao, Xun Hu, Huifang Shang   +6 more
doaj   +1 more source

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, Volume 41, Issue 6, Page 1516-1527, June 2026.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

Molecular Genetics & Genomic Medicine, 2020
Background Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare.
Quan-Fu Li, Hao‐Ling Cheng, Lu Yang, Yin Ma, Jing‐Jing Zhao, Yi Dong, Zhi‐Ying Wu   +6 more
doaj   +1 more source

Redox environment modulates aggregation of ataxin‐3 in vitro — Implications for drug screening of cysteine‐rich proteins

The FEBS Journal, Volume 293, Issue 11, Page 3376-3398, June 2026.
Redox environment modulates in vitro aggregation of Ataxin‐3, the protein implicated in spinocerebellar ataxia type 3. Reducing conditions stabilize native monomers and prevent aggregation, whereas oxidative conditions promote the formation of non‐native conformers and disulfide‐linked oligomers within the Josephin domain (JD).
Martyna Podlasiak, Martina Sollazzo, Elisa Monaca, Raffaele Sabbatella, Maria Agnese Morando, Oleg Chertkov, Laura Puglisi, Martina Mascellino, Anna Fricano, Sandra Macedo‐Ribeiro, Caterina Alfano   +10 more
wiley   +1 more source