[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 …

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 …

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

C Wilke, E Haas, K Reetz, J Faber… - EMBO molecular …, 2020 - embopress.org
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 …

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 …

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 …

Systematic analysis of alternative exon-dependent interactome remodeling reveals multitasking functions of gene regulatory factors

JF Roth, U Braunschweig, M Wu, JD Li, ZY Lin… - Molecular Cell, 2023 - cell.com
Alternative splicing significantly expands biological complexity, particularly in the vertebrate
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 …

A survey of protein interactions and posttranslational modifications that influence the polyglutamine diseases

SL Johnson, WL Tsou, MV Prifti, AL Harris… - Frontiers in Molecular …, 2022 - frontiersin.org
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 …

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 …

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 …