[HTML][HTML] Pathogenesis of SCA3 and implications for other polyglutamine diseases
HS McLoughlin, LR Moore, HL Paulson - Neurobiology of disease, 2020 - Elsevier
Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …
(polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective …
Post-translational modifications of deubiquitinating enzymes: expanding the ubiquitin code
Y Wang, F Wang - Frontiers in pharmacology, 2021 - frontiersin.org
Post-translational modifications such as ubiquitination play important regulatory roles in
several biological processes in eukaryotes. This process could be reversed by …
several biological processes in eukaryotes. This process could be reversed by …
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
With molecular treatments coming into reach for spinocerebellar ataxia type 3 (SCA 3),
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
easily accessible, cross‐species validated biomarkers for human and preclinical trials are …
Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases
S Chu, X Xie, C Payan, U Stochaj - Molecular Neurodegeneration, 2023 - Springer
The AAA+ ATPase valosin containing protein (VCP) is essential for cell and organ
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …
homeostasis, especially in cells of the nervous system. As part of a large network, VCP …
The Role of Ubiquitin–Proteasome System and Mitophagy in the Pathogenesis of Parkinson's Disease
Y Liang, G Zhong, M Ren, T Sun, Y Li, M Ye… - NeuroMolecular …, 2023 - Springer
Parkinson's disease (PD) is a common neurodegenerative disease that is mainly in middle-
aged people and elderly people, and the pathogenesis of PD is complex and diverse. The …
aged people and elderly people, and the pathogenesis of PD is complex and diverse. The …
Systematic analysis of alternative exon-dependent interactome remodeling reveals multitasking functions of gene regulatory factors
Alternative splicing significantly expands biological complexity, particularly in the vertebrate
nervous system. Increasing evidence indicates that developmental and tissue-dependent …
nervous system. Increasing evidence indicates that developmental and tissue-dependent …
A novel SCA3 knock-in mouse model mimics the human SCA3 disease phenotype including neuropathological, behavioral, and transcriptional abnormalities …
E Haas, RD Incebacak, T Hentrich, C Huridou… - Molecular …, 2022 - Springer
Spinocerebellar ataxia type 3 is the most common autosomal dominant inherited ataxia
worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a …
worldwide, caused by a CAG repeat expansion in the Ataxin-3 gene resulting in a …
A survey of protein interactions and posttranslational modifications that influence the polyglutamine diseases
The presence and aggregation of misfolded proteins has deleterious effects in the nervous
system. Among the various diseases caused by misfolded proteins is the family of the …
system. Among the various diseases caused by misfolded proteins is the family of the …
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
M Prudencio, H Garcia-Moreno… - Science translational …, 2020 - science.org
Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3
gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein …
gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein …
The Machado–Joseph disease deubiquitylase ataxin‐3 interacts with LC3C/GABARAP and promotes autophagy
LK Herzog, É Kevei, R Marchante, C Böttcher… - Aging cell, 2020 - Wiley Online Library
The pathology of spinocerebellar ataxia type 3, also known as Machado‐Joseph disease, is
triggered by aggregation of toxic ataxin‐3 (ATXN3) variants containing expanded …
triggered by aggregation of toxic ataxin‐3 (ATXN3) variants containing expanded …