Spinal cord atrophy in spinocerebellar ataxia type 3 and 6

2008 ◽  
Vol 255 (8) ◽  
pp. 1244-1249 ◽  
Author(s):  
C. Lukas ◽  
H. K. Hahn ◽  
B. Bellenberg ◽  
K. Hellwig ◽  
C. Globas ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinal Cord Atrophy ◽  
Spinocerebellar Ataxia Type 3 ◽  
Type 3

Mitochondrial impairment in patients with spinocerebellar ataxia type 3

2004 ◽  
Vol 31 (S 1) ◽  
Author(s):  
L Schöls ◽  
J Andrich ◽  
H Przuntek ◽  
K Müller ◽  
J Zange
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Mitochondrial Impairment ◽  
Type 3

scholarly journals A fine balance between Prpf19 and Exoc7 in achieving degradation of aggregated protein and suppression of cell death in spinocerebellar ataxia type 3

2021 ◽  
Vol 12 (2) ◽  
Author(s):  
Zhefan Stephen Chen ◽  
Xiaoying Huang ◽  
Kevin Talbot ◽  
Ho Yin Edwin Chan
Keyword(s):  
Spinocerebellar Ataxia ◽  
E3 Ligase ◽  
Spinocerebellar Ataxia Type ◽  
Disease Genes ◽  
Spinocerebellar Ataxia Type 3 ◽  
E3 Ligases ◽  
Protein Ubiquitination ◽  
Polyq Protein ◽  
Polyq Diseases ◽  
Type 3

AbstractPolyglutamine (polyQ) diseases comprise Huntington’s disease and several subtypes of spinocerebellar ataxia, including spinocerebellar ataxia type 3 (SCA3). The genomic expansion of coding CAG trinucleotide sequence in disease genes leads to the production and accumulation of misfolded polyQ domain-containing disease proteins, which cause cellular dysfunction and neuronal death. As one of the principal cellular protein clearance pathways, the activity of the ubiquitin–proteasome system (UPS) is tightly regulated to ensure efficient clearance of damaged and toxic proteins. Emerging evidence demonstrates that UPS plays a crucial role in the pathogenesis of polyQ diseases. Ubiquitin (Ub) E3 ligases catalyze the transfer of a Ub tag to label proteins destined for proteasomal clearance. In this study, we identified an E3 ligase, pre-mRNA processing factor 19 (Prpf19/prp19), that modulates expanded ataxin-3 (ATXN3-polyQ), disease protein of SCA3, induced neurodegeneration in both mammalian and Drosophila disease models. We further showed that Prpf19/prp19 promotes poly-ubiquitination and degradation of mutant ATXN3-polyQ protein. Our data further demonstrated the nuclear localization of Prpf19/prp19 is essential for eliciting its modulatory function towards toxic ATXN3-polyQ protein. Intriguingly, we found that exocyst complex component 7 (Exoc7/exo70), a Prpf19/prp19 interacting partner, modulates expanded ATXN3-polyQ protein levels and toxicity in an opposite manner to Prpf19/prp19. Our data suggest that Exoc7/exo70 exerts its ATXN3-polyQ-modifying effect through regulating the E3 ligase function of Prpf19/prp19. In summary, this study allows us to better define the mechanistic role of Exoc7/exo70-regulated Prpf19/prp19-associated protein ubiquitination pathway in SCA3 pathogenesis.

scholarly journals Polyglutamine‐Expanded Ataxin‐3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood

2021 ◽  
Author(s):  
Jeannette Hübener‐Schmid ◽  
Kirsten Kuhlbrodt ◽  
Julien Peladan ◽  
Jennifer Faber ◽  
Magda M. Santana ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Peripheral Blood ◽  
Spinocerebellar Ataxia Type ◽  
Target Engagement ◽  
Spinocerebellar Ataxia Type 3 ◽  
Type 3

scholarly journals Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

2016 ◽  
Vol 16 (3) ◽  
pp. 589-592 ◽  
Author(s):  
Susanne K. Hansen ◽  
Helena Borland ◽  
Lis F. Hasholt ◽  
Zeynep Tümer ◽  
Jørgen E. Nielsen ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Spinocerebellar Ataxia Type ◽  
Stem Cell Line ◽  
Spinocerebellar Ataxia Type 3 ◽  
Induced Pluripotent ◽  
Type 3

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

1995 ◽  
Vol 38 (1) ◽  
pp. 68-72 ◽  
Author(s):  
Toni Matilla ◽  
Alanna McCall ◽  
S. H. Subramony ◽  
Huda Y. Zoghbi
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 3 ◽  
Clinical Correlations ◽  
Machado Joseph Disease ◽  
Type 3

scholarly journals Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

2016 ◽  
Vol 16 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Susanne K. Hansen ◽  
Helena Borland ◽  
Lis F. Hasholt ◽  
Zeynep Tümer ◽  
Jørgen E. Nielsen ◽  
...  
Keyword(s):  
Stem Cell ◽  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Spinocerebellar Ataxia Type ◽  
Stem Cell Line ◽  
Spinocerebellar Ataxia Type 3 ◽  
Induced Pluripotent ◽  
Type 3
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