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94 results for Machado-Joseph+Disease+-+pathology

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ArticlesPeer ReviewedFull Text
Deubiquitinating enzyme amino acid profiling reveals a class of ubiquitin esterases
Author / Creator:De Cesare, Virginia ; Lopez, Daniel Carbajo ; Mabbitt, Peter D. ; Fletcher, Adam J. ; Soetens, Mathieu ; Antico, Odetta ; Wood, Nicola T. ; Virdee, Satpal
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (4), p.1-12
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Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease
Author / Creator:Koch, Philipp ; Breuer, Peter ; Peitz, Michael ; Jungverdorben, Johannes ; Kesavan, Jaideep ; Poppe, Daniel ; Doerr, Jonas ; Ladewig, Julia ; Mertens, Jerome ; Tüting, Thomas ; Hoffmann, Per ; Klockgether, Thomas ; Evert, Bernd O. ; Wüllner, Ullrich ; Brüstle, Oliver
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2011-12, Vol.480 (7378), p.543-546
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The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy
Author / Creator:Herzog, Laura K. ; Kevei, Éva ; Marchante, Ricardo ; Böttcher, Claudia ; Bindesbøll, Christian ; Lystad, Alf Håkon ; Pfeiffer, Annika ; Gierisch, Maria E. ; Salomons, Florian A. ; Simonsen, Anne ; Hoppe, Thorsten ; Dantuma, Nico P.
Publisher:England: John Wiley & Sons, Inc
Journal title:Aging cell, 2020-01, Vol.19 (1), p.e13051-n/a
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Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species
Author / Creator:Quinet, Grégoire ; Paz-Cabrera, María Cristina ; Freire, Raimundo
Publisher:United States: Public Library of Science
Journal title:PloS one, 2024-12, Vol.19 (12), p.e0315868
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Caloric restriction blocks neuropathology and motor deficits in Machado–Joseph disease mouse models through SIRT1 pathway
Author / Creator:Cunha-Santos, Janete ; Duarte-Neves, Joana ; Carmona, Vitor ; Guarente, Leonard ; Pereira de Almeida, Luís ; Cavadas, Cláudia
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-05, Vol.7 (1), p.11445-11445, Article 11445
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Progressive subcortical involvement as spinocerebellar ataxia type 3 advances
Author / Creator:Yuan, Pubing ; Huang, Yonghua ; Dai, Minghui ; Jin, Xin ; Zheng, Dingxin ; Xiao, Die ; Deng, Lihua ; Ou, Peiling ; Shi, Linfeng ; Chen, Yifan ; Wang, Jian ; Chen, Wei ; Zhang, Yuanchao ; Liu, Chen
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-06, Vol.20 (1), p.275-10
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Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage
Author / Creator:Qiu, Haishan ; Wu, Chao ; Liang, Jiahui ; Hu, Manshi ; Chen, Yingqian ; Huang, Zihuan ; Yang, Zhiyun ; Zhao, Jing ; Chu, Jianping
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European radiology, 2023-04, Vol.33 (4), p.2881-2894
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Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre‐Symptomatic to Symptomatic Stage
Author / Creator:Qiu, Haishan ; Hu, Manshi ; Jiang, Chao ; Wu, Jiale ; Huang, Zihuan ; Liang, Jiahui ; Sha, Runhua ; Zeng, Wenting ; Wu, Chao ; Chu, Jianping ; Zhao, Jing
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2025-04, Vol.32 (4), p.e70127-n/a
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Genome editing in spinocerebellar ataxia type 3 cells improves Golgi apparatus structure
Author / Creator:Wang, Yanlin ; Cheng, Yunan ; Sun, Huifang ; Wang, Zhuoya ; Chen, Na ; Shi, Changhe ; Liu, Han ; Yang, Jing ; Xu, Yuming
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2025-04, Vol.15 (1), p.12106-13, Article 12106
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Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment
Author / Creator:Soto-Piña, Alexandra E. ; Pulido-Alvarado, Caroline C. ; Dulski, Jaroslaw ; Wszolek, Zbigniew K. ; Magaña, Jonathan J.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-08, Vol.25 (15), p.8074
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Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis
Author / Creator:Chakraborty, Anirban ; Tapryal, Nisha ; Venkova, Tatiana ; Mitra, Joy ; Vasquez, Velmarini ; Sarke, Altaf H. ; Duarte-Silva, Sara ; Huai, Weihan ; Ashizawa, Tetsuo ; Ghosh, Gourisankar ; Macield, Patricia ; Sarkar, Partha S. ; Hegde, Muralidhar L. ; Cheni, Xu ; Hazra, Tapas K.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-04, Vol.117 (14), p.8154-8165
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Pathophysiological interplay between O-GlcNAc transferase and the Machado–Joseph disease protein ataxin-3
Author / Creator:Sena, Priscila Pereira ; Weber, Jonasz J. ; Watchon, Maxinne ; Robinson, Katherine J. ; Wassouf, Zinah ; Hauser, Stefan ; Helm, Jacob ; Abeditashi, Mahkameh ; Schmidt, Jana ; Hübener-Schmid, Jeannette ; Schöls, Ludger ; Laird, Angela S. ; Riess, Olaf ; Schmidt, Thorsten
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-11, Vol.118 (47), p.1-12
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Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy
Author / Creator:Pluciennik, Anna ; Liu, Yuhong ; Molotsky, Elana ; Marsh, Gregory B. ; Ranxhi, Bedri ; Arnold, Frederick J. ; St.-Cyr, Sophie ; Davidson, Beverly ; Pourshafie, Naemeh ; Lieberman, Andrew P. ; Gu, Wei ; Todi, Sokol V. ; Merry, Diane E.
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-18
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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study
Author / Creator:Ye, Zhi-Xian ; Chen, Xuan-Yu ; Li, Meng-Cheng ; Chen, Xin-Yuan ; Qiu, Yu-Sen ; Yuan, Ru-Ying ; Chen, Zhi-Li ; Lin, Min-Ting ; Hu, Jian-Ping ; Fu, Ying ; Chen, Wan-Jin ; Wang, Ning ; Gan, Shi-Rui
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-01, Vol.20 (1), p.35-11, Article 35
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n-Butylidenephthalide Modulates Autophagy to Ameliorate Neuropathological Progress of Spinocerebellar Ataxia Type 3 through mTOR Pathway
Author / Creator:Lee, Jui-Hao ; Lin, Si-Yin ; Liu, Jen-Wei ; Lin, Shinn-Zong ; Harn, Horng-Jyh ; Chiou, Tzyy-Wen
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2021-06, Vol.22 (12), p.6339
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Identifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3
Author / Creator:Li, Donghui ; Yu, Jinyang ; Zhu, Chenhao ; Du, Yichu ; Ma, Yin ; Dong, Yi ; Wu, Zhiying
Publisher:Hagerstown, MD: Lippincott Williams & Wilkins
Journal title:Chinese medical journal, 2024-09, Vol.137 (17), p.2131-2133
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Production of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors
Author / Creator:Konno, Ayumu ; Shinohara, Yoichiro ; Hirai, Hirokazu
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-07, Vol.25 (13), p.7205
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Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3
Author / Creator:Gao, Rui ; Liu, Yongping ; Silva-Fernandes, Anabela ; Fang, Xiang ; Paulucci-Holthauzen, Adriana ; Chatterjee, Arpita ; Zhang, Hang L. ; Matsuura, Tohru ; Choudhary, Sanjeev ; Ashizawa, Tetsuo ; Koeppen, Arnulf H. ; Maciel, Patricia ; Hazra, Tapas K. ; Sarkar, Partha S.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-01, Vol.11 (1), p.e1004834
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Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease
Author / Creator:do Carmo Costa, Maria ; Luna-Cancalon, Katiuska ; Fischer, Svetlana ; Ashraf, Naila S ; Ouyang, Michelle ; Dharia, Rahil M ; Martin-Fishman, Lucas ; Yang, Yemen ; Shakkottai, Vikram G ; Davidson, Beverly L ; Rodríguez-Lebrón, Edgardo ; Paulson, Henry L
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2013-10, Vol.21 (10), p.1898-1908
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Machado-Joseph Disease: from first descriptions to new perspectives
Author / Creator:Bettencourt, Conceição ; Lima, Manuela
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.35-35
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Showing 1 to 20 of 94 results

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Deubiquitinating enzyme amino acid profiling reveals a class of ubiquitin esterases

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Excitation-induced ataxin-3 aggregation in neurons from patients with Machado–Joseph disease

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The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy

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Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species

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Caloric restriction blocks neuropathology and motor deficits in Machado–Joseph disease mouse models through SIRT1 pathway

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Progressive subcortical involvement as spinocerebellar ataxia type 3 advances

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Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage

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Altered Brain Iron Depositions of Spinocerebellar Ataxia Type 3: From Pre‐Symptomatic to Symptomatic Stage

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Genome editing in spinocerebellar ataxia type 3 cells improves Golgi apparatus structure

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Specific Biomarkers in Spinocerebellar Ataxia Type 3: A Systematic Review of Their Potential Uses in Disease Staging and Treatment Assessment

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Deficiency in classical nonhomologous end-joining–mediated repair of transcribed genes is linked to SCA3 pathogenesis

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Pathophysiological interplay between O-GlcNAc transferase and the Machado–Joseph disease protein ataxin-3

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Deubiquitinase USP7 contributes to the pathogenicity of spinal and bulbar muscular atrophy

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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study

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n-Butylidenephthalide Modulates Autophagy to Ameliorate Neuropathological Progress of Spinocerebellar Ataxia Type 3 through mTOR Pathway

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Identifying extracerebellar characteristics in a large cohort of 319 Chinese patients with spinocerebellar ataxia type 3

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Production of Spinocerebellar Ataxia Type 3 Model Mice by Intravenous Injection of AAV-PHP.B Vectors

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Inactivation of PNKP by Mutant ATXN3 Triggers Apoptosis by Activating the DNA Damage-Response Pathway in SCA3

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Toward RNAi Therapy for the Polyglutamine Disease Machado–Joseph Disease

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Machado-Joseph Disease: from first descriptions to new perspectives

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