Mechanisms of protein toxicity in neurodegenerative diseases

CG Chung, H Lee, SB Lee - Cellular and Molecular Life Sciences, 2018 - Springer
Protein toxicity can be defined as all the pathological changes that ensue from
accumulation, mis-localization, and/or multimerization of disease-specific proteins. Most …

Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy

CA Matos, LP de Almeida… - Journal of …, 2019 - Wiley Online Library
Abstract Machado–Joseph disease (MJD), also known as spinocerebellar ataxia type 3
(SCA 3), is an incurable disorder, widely regarded as the most common form of …

VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington's disease

X Guo, XY Sun, D Hu, YJ Wang, H Fujioka… - Nature …, 2016 - nature.com
Mutant Huntingtin (mtHtt) causes neurodegeneration in Huntington's disease (HD) by
evoking defects in the mitochondria, but the underlying mechanisms remains elusive. Our …

PERK pathway and neurodegenerative disease: to inhibit or to activate?

T Shacham, C Patel, GZ Lederkremer - Biomolecules, 2021 - mdpi.com
With the extension of life span in recent decades, there is an increasing burden of late-onset
neurodegenerative diseases, for which effective treatments are lacking. Neurodegenerative …

Sequestration of cellular interacting partners by protein aggregates: implication in a loss‐of‐function pathology

H Yang, HY Hu - The FEBS journal, 2016 - Wiley Online Library
Protein misfolding and aggregation are a hallmark of several neurodegenerative diseases
(ND s). However, how protein aggregation leads to cytotoxicity and neurodegeneration is …

[HTML][HTML] From pathogenesis to novel therapeutics for spinocerebellar ataxia type 3: evading potholes on the way to translation

JD Da Silva, A Teixeira-Castro, P Maciel - Neurotherapeutics, 2019 - Elsevier
Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machado–Joseph disease
(MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 …

ATXN3 controls DNA replication and transcription by regulating chromatin structure

E Hernández‐Carralero, E Cabrera… - Nucleic Acids …, 2023 - academic.oup.com
The deubiquitinating enzyme Ataxin-3 (ATXN3) contains a polyglutamine (PolyQ) region, the
expansion of which causes spinocerebellar ataxia type-3 (SCA3). ATXN3 has multiple …

Protein aggregation in cell biology: An aggregomics perspective of health and disease

D Cox, C Raeburn, X Sui, DM Hatters - Seminars in Cell & Developmental …, 2020 - Elsevier
Maintaining protein homeostasis (proteostasis) is essential for cellular health and is
governed by a network of quality control machinery comprising over 800 genes. When …

The truncated C-terminal fragment of mutant ATXN3 disrupts mitochondria dynamics in spinocerebellar ataxia type 3 models

JY Hsu, YL Jhang, PH Cheng, YF Chang… - Frontiers in molecular …, 2017 - frontiersin.org
Spinocerebellar ataxia type 3 (SCA3), known as Machado-Joseph disease, is an autosomal
dominant disease caused by an abnormal expansion of polyglutamine in ATXN3 gene …

ATXN3: a multifunctional protein involved in the polyglutamine disease spinocerebellar ataxia type 3

E Hernández-Carralero, G Quinet… - Expert Reviews in …, 2024 - cambridge.org
ATXN3 is a ubiquitin hydrolase (or deubiquitinase, DUB), product of the ATXN3 gene,
ubiquitously expressed in various cell types including peripheral and neuronal tissues and …