Polyglutamine spinocerebellar ataxias—from genes to potential treatments

HL Paulson, VG Shakkottai, HB Clark… - Nature Reviews …, 2017 - nature.com
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …

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 …

Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders

Y Cui, FJ Arnold, F Peng, D Wang, JS Li… - Nature …, 2023 - nature.com
Alternative polyadenylation (APA) plays an essential role in brain development; however,
current transcriptome-wide association studies (TWAS) largely overlook APA in nominating …

Post-translational modifications: regulators of neurodegenerative proteinopathies

R Gupta, M Sahu, D Srivastava, S Tiwari… - Ageing Research …, 2021 - Elsevier
One of the hallmark features in the neurodegenerative disorders (NDDs) is the accumulation
of aggregated and/or non-functional protein in the cellular milieu. Post-translational …

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 …

Mechanisms orchestrating the enzymatic activity and cellular functions of deubiquitinases

B Estavoyer, C Messmer, M Echbicheb… - Journal of Biological …, 2022 - ASBMB
Deubiquitinases (DUBs) are required for the reverse reaction of ubiquitination and act as
major regulators of ubiquitin signaling processes. Emerging evidence suggests that these …

The p97–Ataxin 3 complex regulates homeostasis of the DNA damage response E3 ubiquitin ligase RNF 8

AN Singh, J Oehler, I Torrecilla, S Kilgas, S Li… - The EMBO …, 2019 - embopress.org
The E3 ubiquitin ligase RNF 8 (RING finger protein 8) is a pivotal enzyme for DNA repair.
However, RNF 8 hyper‐accumulation is tumour‐promoting and positively correlates with …

[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 …

Molecular rhythm alterations in prefrontal cortex and nucleus accumbens associated with opioid use disorder

X Xue, W Zong, JR Glausier, SM Kim… - Translational …, 2022 - nature.com
Severe and persistent disruptions to sleep and circadian rhythms are common in people
with opioid use disorder (OUD). Preclinical evidence suggests altered molecular rhythms in …

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 …