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 …

Genetics and Epigenetics of the X and Y Chromosomes in the Sexual Differentiation of the Brain

LE Cabrera Zapata, LM Garcia-Segura… - International Journal of …, 2022 - mdpi.com
For many decades to date, neuroendocrinologists have delved into the key contribution of
gonadal hormones to the generation of sex differences in the developing brain and the …

Organization of the connections between claustrum and cortex in the mouse

Q Wang, L Ng, JA Harris, D Feng, Y Li… - Journal of …, 2017 - Wiley Online Library
The connections between the claustrum and the cortex in mouse are systematically
investigated with adeno‐associated virus (AAV), an anterograde viral tracer. We first define …

Therapeutic inhibition of USP9x-mediated Notch signaling in triple-negative breast cancer

A Jaiswal, K Murakami, A Elia… - Proceedings of the …, 2021 - National Acad Sciences
Triple-negative breast cancer (TNBC) is a breast cancer subtype that lacks targeted
treatment options. The activation of the Notch developmental signaling pathway, which is a …

Nitric oxide prevents aortic valve calcification by S-nitrosylation of USP9X to activate NOTCH signaling

U Majumdar, S Manivannan, M Basu, Y Ueyama… - Science …, 2021 - science.org
Calcific aortic valve disease (CAVD) is an increasingly prevalent condition, and endothelial
dysfunction is implicated in its etiology. We previously identified nitric oxide (NO) as a …

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

CC Homan, R Kumar, LS Nguyen, E Haan… - The American Journal of …, 2014 - cell.com
With a wealth of disease-associated DNA variants being recently reported, the challenges of
providing their functional characterization are mounting. Previously, as part of a large …

Zeb2: A multifunctional regulator of nervous system development

SV Hegarty, AM Sullivan, GW O'Keeffe - Progress in neurobiology, 2015 - Elsevier
Zinc finger E-box binding homeobox (Zeb) 2 is a transcription factor, identified due its ability
to bind Smad proteins, and consists of multiple functional domains which interact with a …

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 …

Deubiquitinating enzyme USP9X suppresses tumor growth via LATS kinase and core components of the hippo pathway

A Toloczko, F Guo, HF Yuen, Q Wen, SA Wood… - Cancer research, 2017 - AACR
The core LATS kinases of the Hippo tumor suppressor pathway phosphorylate and inhibit
the downstream transcriptional co-activators YAP and TAZ, which are implicated in various …

Deubiquitylases in developmental ubiquitin signaling and congenital diseases

MA Basar, DB Beck, A Werner - Cell Death & Differentiation, 2021 - nature.com
Metazoan development from a one-cell zygote to a fully formed organism requires complex
cellular differentiation and communication pathways. To coordinate these processes …