Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease [PDF]
Frontiers in Molecular Neuroscience, 2023 Lysine residues are one of the main sites for posttranslational modifications of proteins, and lysine ubiquitination of the Machado-Joseph disease protein ataxin-3 is implicated in its cellular function and polyglutamine expansion-dependent toxicity ...
Priscila Pereira Sena +13 more
doaj +4 more sources
Targeting the VCP-binding motif of ataxin-3 improves phenotypes in Drosophila models of Spinocerebellar Ataxia Type 3 [PDF]
Neurobiology of Disease, 2021 Of the family of polyglutamine (polyQ) neurodegenerative diseases, Spinocerebellar Ataxia Type 3 (SCA3) is the most common. Like other polyQ diseases, SCA3 stems from abnormal expansions in the CAG triplet repeat of its disease gene resulting in ...
Sean L. Johnson +6 more
doaj +3 more sources
Impaired interactions of ataxin-3 with protein complexes reveals their specific structure and functions in SCA3 Ki150 model [PDF]
Frontiers in Molecular Neuroscience, 2023 Spinocerebellar ataxia type 3 (SCA3/MJD) is a neurodegenerative disease caused by CAG expansion in mutant ATXN3 gene. The resulting PolyQ tract in mutant ataxin-3 protein is toxic to neurons and currently no effective treatment exists.
Piotr Piasecki +5 more
doaj +4 more sources
A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly [PDF]
Cells, 2022 Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of a glutamine repeat in the protein ataxin-3, which is deposited as intracellular aggregates in affected brain regions. Despite the controversial role of ataxin-3 amyloid structures in SCA3
Francisco Figueiredo +6 more
doaj +5 more sources
Conformational behavior and aggregation of ataxin-3 in SDS. [PDF]
PLoS ONE, 2013 Spinocerebellar ataxia type 3 (SCA3) is one of nine polyglutamine (polyQ) diseases all characterized by the presence of intraneuronal inclusions that contain aggregated protein.
Helen M Saunders +3 more
doaj +6 more sources
Ataxin-3 Links NOD2 and TLR2 Mediated Innate Immune Sensing and Metabolism in Myeloid Cells [PDF]
Frontiers in Immunology, 2019 The interplay between NOD2 and TLR2 following recognition of components of the bacterial cell wall peptidoglycan is well-established, however their role in redirecting metabolic pathways in myeloid cells to degrade pathogens and mount antigen ...
Thomas P. Chapman +11 more
doaj +4 more sources
Gastrodin inhibits the formation of ataxin-3 aggregates by regulating the level of ERK1/2/P38 proteins [PDF]
Orphanet Journal of Rare DiseasesBackground Spinocerebellar ataxia type 3 (SCA3/Machado-Joseph disease), an incurable autosomal dominant neurodegenerative disorder, is caused by cytotoxic aggregation of polyglutamine-expanded ataxin-3 protein.
Zijian Wang +7 more
doaj +4 more sources
Allele-specific targeting of mutant ataxin-3 by antisense oligonucleotides in SCA3-iPSC-derived neurons [PDF]
Molecular Therapy: Nucleic Acids, 2022 Spinocerebellar ataxia type 3 (SCA3) is caused by an expanded polyglutamine stretch in ataxin-3. While wild-type ataxin-3 has important functions, e.g., as a deubiquitinase, downregulation of mutant ataxin-3 is likely to slow down the course of this ...
Stefan Hauser +5 more
doaj +2 more sources
Ataxin-3, The Spinocerebellar Ataxia Type 3 Neurodegenerative Disorder Protein, Affects Mast Cell Functions [PDF]
Frontiers in Immunology, 2022 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by loss of neuronal matter due to the expansion of the CAG repeat in the ATXN3/MJD1 gene and subsequent ataxin-3 protein.
Anna S. Sowa +3 more
doaj +2 more sources
Neurobiology of Disease, 2008 In the present study, we prepared a SCA3 animal model by generating transgenic mice expressing polyglutamine-expanded ataxin-3-Q79. Ataxin-3-Q79 was expressed in brain areas implicated in SCA3 neurodegeneration, including cerebellum, pontine nucleus and ...
An-Hsun Chou +2 more
exaly +3 more sources