Machado–Joseph disease/spinocerebellar ataxia type 3: lessons from disease pathogenesis and clues into therapy
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 …
(SCA 3), is an incurable disorder, widely regarded as the most common form of …
The integrated stress response and phosphorylated eukaryotic initiation factor 2α in neurodegeneration
S Bond, C Lopez-Lloreda, PJ Gannon… - … of Neuropathology & …, 2020 - academic.oup.com
The proposed molecular mechanisms underlying neurodegenerative pathogenesis are
varied, precluding the development of effective therapies for these increasingly prevalent …
varied, precluding the development of effective therapies for these increasingly prevalent …
UNC-49 is a redox-sensitive GABAA receptor that regulates the mitochondrial unfolded protein response cell nonautonomously
F Pohl, AL Germann, J Mao, S Hou, B Bakare… - Science …, 2023 - science.org
The γ-aminobutyric acid–mediated (GABAergic) system participates in many aspects of
organismal physiology and disease, including proteostasis, neuronal dysfunction, and life …
organismal physiology and disease, including proteostasis, neuronal dysfunction, and life …
[HTML][HTML] Emerging topics in C. elegans aging research: Transcriptional regulation, stress response and epigenetics
Key discoveries in aging research have been made possible with the use of model
organisms. Caenorhabditis elegans is a short-lived nematode that has become a well …
organisms. Caenorhabditis elegans is a short-lived nematode that has become a well …
[HTML][HTML] From pathogenesis to novel therapeutics for spinocerebellar ataxia type 3: evading potholes on the way to translation
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 …
(MJD), is a neurodegenerative disorder caused by a polyglutamine expansion in the ATXN3 …
Consensus paper: strengths and weaknesses of animal models of spinocerebellar ataxias and their clinical implications
Spinocerebellar ataxias (SCAs) represent a large group of hereditary degenerative diseases
of the nervous system, in particular the cerebellum, and other systems that manifest with a …
of the nervous system, in particular the cerebellum, and other systems that manifest with a …
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias
exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular …
exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular …
Exploring the potential of small molecule-based therapeutic approaches for targeting trinucleotide repeat disorders
In recent years, neurological disorders have globally become a leading cause of disability
and death. Neurological disorders are very common in both high-and low-income countries …
and death. Neurological disorders are very common in both high-and low-income countries …
The mechano-ubiquitinome of articular cartilage: differential ubiquitination and activation of a group of ER-associated DUBs and ER stress regulators
N Kaokhum, A Pinto-Fernandez, M Wilkinson… - Molecular & Cellular …, 2022 - ASBMB
Understanding how connective tissue cells respond to mechanical stimulation is important to
human health and disease processes in musculoskeletal diseases. Injury to articular …
human health and disease processes in musculoskeletal diseases. Injury to articular …
Advances in cerebellar disorders: pre-clinical models, therapeutic targets, and challenges
ABSTRACT Introduction Cerebellar ataxias (CAs) represent neurological disorders with
multiple etiologies and a high phenotypic variability. Despite progress in the understanding …
multiple etiologies and a high phenotypic variability. Despite progress in the understanding …