Results 101 to 110 of about 19,027,943 (182)

In vivo suppression of polyglutamine neurotoxicity by C-terminus of Hsp70-interacting protein (CHIP) supports an aggregation model of pathogenesis

Neurobiology of Disease, 2009
Perturbations in neuronal protein homeostasis likely contribute to disease pathogenesis in polyglutamine (polyQ) neurodegenerative disorders. Here we provide evidence that the co-chaperone and ubiquitin ligase, CHIP (C-terminus of Hsp70-interacting ...
Aislinn J. Williams, Tina M. Knutson, Veronica F. Colomer Gould, Henry L. Paulson   +3 more
doaj   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1370-1378, July 2026.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Genome-wide screen for modifiers of ataxin-3 neurodegeneration in Drosophila. [PDF]

PLoS Genetics, 2007
Spinocerebellar ataxia type-3 (SCA3) is among the most common dominantly inherited ataxias, and is one of nine devastating human neurodegenerative diseases caused by the expansion of a CAG repeat encoding glutamine within the gene.
Julide Bilen, Nancy M Bonini
doaj   +1 more source

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

Advanced Science, Volume 13, Issue 40, 17 July 2026.
TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando, Emanuele Buratti, Francesca Paron   +2 more
wiley   +1 more source

Caspase‐mediated proteolysis of the polyglutamine disease protein ataxin‐3 [PDF]

Journal of Neurochemistry, 2004
AbstractSpinocerebellar ataxia type‐3, also known as Machado‐Joseph Disease, is one of many inherited neurodegenerative disorders caused by polyglutamine‐encoding CAG repeat expansions in otherwise unrelated disease genes. Polyglutamine disorders are characterized by disease protein misfolding and aggregation; often within the nuclei of affected ...
Berke, S.J.S., Schmied, F.A.F., Brunt, E.R., Ellerby, L.M., Paulson, H.L.   +4 more
openaire   +2 more sources

Chemical Chaperones Reduce Aggregate Formation and Cell Death Caused by the Truncated Machado–Joseph Disease Gene Product with an Expanded Polyglutamine Stretch

Neurobiology of Disease, 2002
Machado–Joseph disease/spinocerebellar ataxia-3 (MJD/SCA-3) is an inherited neurodegenerative disorder caused by expansion of the polyglutamine stretch in the MJD gene-encoded protein ataxin-3.
Hideaki Yoshida, Toshihiro Yoshizawa, Futoshi Shibasaki, Shin'ichi Shoji, Ichiro Kanazawa   +4 more
doaj   +1 more source

Diagnostic Pitfalls in Hereditary Neurological Disorders: Machado–Joseph Disease Presenting as Charcot–Marie–Tooth Disease: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT We report a 60‐year‐old Chinese woman with Machado–Joseph disease (MJD/SCA3), initially managed as Charcot–Marie–Tooth disease due to distal sensory loss, pes cavus, and areflexia. Later cerebellar, bulbar, and ocular signs, together with ATXN3 CAG expansion, clarified the diagnosis and highlighted the need to revisit atypical hereditary ...
Enoch Chi Ngai Lim, Chi Eung Danforn Lim
wiley   +1 more source

Understanding the role of the Josephin domain in the PolyUb binding and cleavage properties of ataxin-3.

PLoS ONE, 2010
Ataxin-3, the disease protein in the neurodegenerative disorder Spinocerebellar Ataxia Type 3 or Machado Joseph disease, is a cysteine protease implicated in the ubiquitin proteasome pathway.
Giuseppe Nicastro, Sokol V Todi, Ezgi Karaca, Alexandre M J J Bonvin, Henry L Paulson, Annalisa Pastore   +5 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

Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels. [PDF]

PLoS ONE, 2010
During myogenesis several transcription factors and regulators of protein synthesis and assembly are rapidly degraded by the ubiquitin-proteasome system (UPS).
Maria do Carmo Costa, Fernanda Bajanca, Ana-João Rodrigues, Ricardo J Tomé, Garry Corthals, Sandra Macedo-Ribeiro, Henry L Paulson, Elsa Logarinho, Patrícia Maciel   +8 more
doaj   +1 more source