Deubiquitinating enzymes (DUBs): Regulation, homeostasis, and oxidative stress response

NA Snyder, GM Silva - Journal of Biological Chemistry, 2021 - ASBMB
Ubiquitin signaling is a conserved, widespread, and dynamic process in which protein
substrates are rapidly modified by ubiquitin to impact protein activity, localization, or stability …

A roadmap for precision medicine in the epilepsies

EpiPM Consortium - The Lancet Neurology, 2015 - Elsevier
Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

[HTML][HTML] Pharmacogenomics in epilepsy

S Balestrini, SM Sisodiya - Neuroscience letters, 2018 - Elsevier
There is high variability in the response to antiepileptic treatment across people with
epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the …

Novel highly selective inhibitors of ubiquitin specific protease 30 (USP30) accelerate mitophagy

AF Kluge, BR Lagu, P Maiti, M Jaleel, M Webb… - Bioorganic & medicinal …, 2018 - Elsevier
Mitophagy is one of the processes that cells use to maintain overall health. An E3 ligase,
parkin, ubiquitinates mitochondrial proteins prior to their degradation by autophagasomes …

USP9X regulates centrosome duplication and promotes breast carcinogenesis

X Li, N Song, L Liu, X Liu, X Ding, X Song… - Nature …, 2017 - nature.com
Defective centrosome duplication is implicated in microcephaly and primordial dwarfism as
well as various ciliopathies and cancers. Yet, how the centrosome biogenesis is regulated …

USP30: structure, emerging physiological role, and target inhibition

F Wang, Y Gao, L Zhou, J Chen, Z Xie, Z Ye… - Frontiers in …, 2022 - frontiersin.org
Ubiquitin-specific protease 30 (USP30) is a deubiquitinating enzyme (DUB) belonging to the
USP subfamily, which was found localized in the mitochondrial outer membrane and …

De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations

MRF Reijnders, V Zachariadis, B Latour, L Jolly… - The American Journal of …, 2016 - cell.com
Mutations in more than a hundred genes have been reported to cause X-linked recessive
intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked …

[HTML][HTML] The potential roles of deubiquitinating enzymes in brain diseases

KH Lim, JY Joo, KH Baek - Ageing Research Reviews, 2020 - Elsevier
Most proteins undergo posttranslational modification such as acetylation, methylation,
phosphorylation, biotinylation, and ubiquitination to regulate various cellular processes …

Epilepsy and autism

AW Buckley, GL Holmes - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Epilepsy and autistic spectrum disorder frequently coexist in the same individual.
Electroencephalogram (EEG) epileptiform activity is also present at a substantially higher …

USP9X inhibition improves gemcitabine sensitivity in pancreatic cancer by inhibiting autophagy

T Ma, W Chen, X Zhi, H Liu, Y Zhou, BW Chen, L Hu… - Cancer letters, 2018 - Elsevier
Gemcitabine is the cornerstone of pancreatic cancer treatment. Although effective in most
patients, development of tumor resistance to gemcitabine can critically limit its efficacy. The …