Results 11 to 20 of about 5,948 (206)

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice [PDF]

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
doaj   +4 more sources

Influence of ATXN2 intermediate CAG repeats, 9bp duplication and alternative splicing on SCA3 pathogenesis [PDF]

Acta Neuropathologica Communications
Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease whose exact disease pathogenesis is not yet fully understood. We performed a genetic in-depth analysis of ataxin-2 (ATXN2), a gene that has already been described as a modulator of ...
Marilena Lauerer, Jennifer Faber, Nicolas Casadei, Magda M. Santana, Georg Auburger, Michaela Pogoda, Jakob Admard, Lea Kaupp, Patricia Laura Kos, Mafalda Raposo, Manuela Lima, Luis Pereira de Almeida, Hector Garcia-Moreno, Paola Giunti, Jeroen de Vries, Bart P. van de Warrenburg, Judith van Gaalen, Marcus Grobe-Einsler, Berkan Koyak, Kathrin Reetz, Friedrich Erdlenbruch, Heike Jacobi, Jon Infante, Holger Hengel, Ludger Schöls, Thomas Klockgether, Olaf Rieß, Jeannette Hübener-Schmid, ESMI study group   +28 more
doaj   +5 more sources

Phenotypic variance in monozygotic twins with SCA3 [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background Spinocerebellar ataxia type 3 (SCA3) is a hereditary neurodegenerative disorder with high clinical heterogeneity. Twin study is valuable to estimate the contributions of gene and/or environment to phenotypic variance.
Zhi‐Ying Wu, Lu Yang, Hua Zhao, Yi Dong   +3 more
core   +4 more sources

Neurodegenerative phosphoprotein signaling landscape in models of SCA3 [PDF]

Molecular Brain, 2021
Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder resulting from an aberrant expansion of a polyglutamine stretch in the ataxin-3 protein and subsequent neuronal death. The underlying intracellular signaling pathways are currently
Popova, Taissia G., Sowa, Anna, Pereira Sena, Priscila, Sowa, Anna S., Schmidt, Jana, Hübener-Schmid, Jeannette, Schmidt, Thorsten, Weber, Jonasz Jeremiasz, Harmuth, Tina, Weber, Jonasz J.   +9 more
core   +4 more sources

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3 [PDF]

Movement Disorders, 2022
Background: Disease severity in spinocerebellar ataxia type 3 (SCA3) is commonly defined by the Scale for the Assessment and Rating of Ataxia (SARA) sum score, but little is known about the contributions and progression patterns of individual items ...
Jon Infante, Faber, Jennifer, Paula Pires, Santana, Magda M, Jeroen J. de Vries, Matthis Synofzik, Infante Ceberio, Jon, Luís Pereira de Almeida, Schoels, Ludger, Lima, Manuela, Pereira de Almeida, Luis, Onyike, Chiadi, Garcia-Moreno, Hector, Jennifer Faber, Bart P.C. van de Warrenburg, Santana, Magda M., Schöls, Ludger, Hübener-Schmid, Jeannette, Roderick P.P.W.M. Maas, Gaalen, Judith van, Ludger Schöls, Dagmar Timmann, Maas, Roderick P.P.W.M., Judith van Gaalen, Chiadi Onyike, van Gaalen, Judith, van de Warrenburg, Bart P.C., van de Warrenburg, Bart PC, Teerenstra, Steven, Vries, Jeroen J. de, Steven Teerenstra, Kathrin Reetz, Paola Giunti, van de Warrenburg, Bart P. C., Jeannette Hübener‐Schmid, de Vries, Jeroen J., Giunti, Paola, Klockgether, Thomas, de Vries, Jeroen J, Pires, Paula, Jacobi, Heike, Bushara, Khalaf, Synofzik, Matthis, Hübener‐Schmid, Jeannette, Thomas Klockgether, Afonso Ribeiro, Joana, Manuela Lima, Joana Afonso Ribeiro, Reetz, Kathrin, Garcia‐Moreno, Hector, Hector Garcia‐Moreno, Khalaf Bushara, Infante, Jon, Heike Jacobi, Huebener-Schmid, Jeannette, Timmann, Dagmar, Magda M. Santana, Maas, Roderick PPWM, Maas, Roderick P. P. W. M.   +58 more
core   +10 more sources

A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes [PDF]

Molecular Neurobiology, 2021
Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a polyglutamine (polyQ)-expansion in the corresponding protein.
Zimmermann, Frank, Mills, James D., Bahl, Carola, Schulze-Hentrich, Julia M., Schulze-Hentrich, Julia Maria, Hentrich, Thomas, Huridou, Chrisovalantou, Aronica, Eleonora, Riess, Olaf, Schmidt, Thorsten, Hübener-Schmid, Jeannette, Haas, Eva, Maringer, Yacine, Incebacak Eltemur, Rana Dilara, Incebacak, Rana D., Casadei, Nicolas   +15 more
core   +4 more sources

Broad Influence of Mutant Ataxin-3 on the Proteome of the Adult Brain, Young Neurons, and Axons Reveals Central Molecular Processes and Biomarkers in SCA3/MJD Using Knock-In Mouse Model

Frontiers in Molecular Neuroscience, 2021
Spinocerebellar ataxia type 3 (SCA3/MJD) is caused by CAG expansion mutation resulting in a long polyQ domain in mutant ataxin-3. The mutant protein is a special type of protease, deubiquitinase, which may indicate its prominent impact on the regulation ...
Kalina Wiatr, Łukasz Marczak, Maciej Figiel   +2 more
exaly   +3 more sources

Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage-response pathway in SCA3. [PDF]

PLoS Genetics, 2015
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited ataxia worldwide.
Rui Gao, Yongping Liu, Anabela Silva-Fernandes, Xiang Fang, Adriana Paulucci-Holthauzen, Arpita Chatterjee, Hang L Zhang, Tohru Matsuura, Sanjeev Choudhary, Tetsuo Ashizawa, Arnulf H Koeppen, Patricia Maciel, Tapas K Hazra, Partha S Sarkar   +13 more
doaj   +3 more sources

Spinocerebellar Ataxia 3 (SCA3) Patient with Peripheral Neuropathy [PDF]

Majalah Kedokteran Bandung, 2022
Spinocerebellar ataxia (SCA) 3 is a neurodegenerative disease which involves cerebellum and extra cerebellum. Neuropathy in SCA3 manifests in various ways, including axonal and demyelination lesions in sensory and motor nerves.
Gamayani, Uni, Pusparini, Iin, Huda, Fathul, Achmad, Tri Hanggono, Sobana, Siti Aminah, Ganiem, Ahmad Rizal, Wibisono, Yusuf, Sribudiani, Yunia, Lailiyya, Nushrotul   +8 more
core   +3 more sources

Association Between Cerebellar Metabolic Markers and Activities of Daily Living in Patients With Spinocerebellar Ataxia Type 3. [PDF]

Mol Genet Genomic Med
Significant correlations were found between cerebellar metabolite ratios and Activities of Daily Living (ADL) in SCA3 patients. These findings suggest that cerebellar metabolite ratios may serve as potential neuroimaging biomarkers to predict functional disability in SCA3.
Ye M, Qiu XP, Zhang S, Wang L, Gao Z, Liu M, Feng Y.   +6 more
europepmc   +2 more sources