Anna S Sowa +2 more
exaly
Subcellular localization of proteolytic fragments of ataxin-3
2007V. Pastori +6 more
openaire +1 more source
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 +7 more sources
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
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 +7 more sources
Identification and functional dissection of localization signals within ataxin-3
Neurobiology of Disease, 2009 Spinocerebellar ataxia type 3 (SCA3) or Machado–Joseph disease (MJD) belongs to a group of autosomal dominant neurodegenerative diseases, which are caused by the expansion of a polyglutamine repeat in the affected protein, in this case ataxin-3. Ataxin-3
Paul Michel Aloyse Antony +6 more
doaj +6 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 +2 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 +2 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