Deubiquitylating enzymes and drug discovery: emerging opportunities

JA Harrigan, X Jacq, NM Martin… - Nature reviews Drug …, 2018 - nature.com
More than a decade after a Nobel Prize was awarded for the discovery of the ubiquitin–
proteasome system and clinical approval of proteasome and ubiquitin E3 ligase inhibitors …

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 …

[HTML][HTML] X-linked ubiquitin-specific peptidase 11 increases tauopathy vulnerability in women

Y Yan, X Wang, D Chaput, MK Shin, Y Koh, L Gan… - Cell, 2022 - cell.com
Although women experience significantly higher tau burden and increased risk for
Alzheimer's disease (AD) than men, the underlying mechanism for this vulnerability has not …

Prevalence and architecture of de novo mutations in developmental disorders

Nature, 2017 - nature.com
The genomes of individuals with severe, undiagnosed developmental disorders are
enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here …

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud… - Molecular …, 2016 - nature.com
X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder.
During the past two decades in excess of 100 X-chromosome ID genes have been …

Advances in deubiquitinating enzyme inhibition and applications in cancer therapeutics

AM Antao, A Tyagi, KS Kim, S Ramakrishna - Cancers, 2020 - mdpi.com
Since the discovery of the ubiquitin proteasome system (UPS), the roles of ubiquitinating
and deubiquitinating enzymes (DUBs) have been widely elucidated. The ubiquitination of …

La FAM fatale: USP9X in development and disease

M Murtaza, LA Jolly, J Gecz, SA Wood - Cellular and molecular life …, 2015 - Springer
Deubiquitylating enzymes (DUBs), act downstream of ubiquitylation. As such, these post-
post-translational modifiers function as the final arbitrators of a protein substrate's …

X‐linked intellectual disability update 2017

G Neri, CE Schwartz, HA Lubs… - American journal of …, 2018 - Wiley Online Library
The X‐chromosome comprises only about 5% of the human genome but accounts for about
15% of the genes currently known to be associated with intellectual disability. The early …

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia

V Madan, P Shyamsunder, L Han, A Mayakonda… - Leukemia, 2016 - nature.com
Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by
differentiation block at the promyelocyte stage. Besides the presence of chromosomal …

De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder

S Küry, T Besnard, F Ebstein, TN Khan… - The American Journal of …, 2017 - cell.com
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological
process in the development of eukaryotic organisms. Dysregulation of this mechanism leads …