Lachlan Jolly
Lachlan Jolly
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La FAM fatale: USP9X in development and disease
M Murtaza, LA Jolly, J Gecz, SA Wood
Cellular and molecular life sciences 72, 2075-2089, 2015
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, FL Raymond, F Abidi, ...
The American Journal of Human Genetics 94 (3), 470-478, 2014
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
MA Corbett, M Bahlo, L Jolly, Z Afawi, AE Gardner, KL Oliver, S Tan, ...
The American Journal of Human Genetics 87 (3), 371-375, 2010
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal …
LA Jolly, CC Homan, R Jacob, S Barry, J Gecz
Human molecular genetics 22 (23), 4673-4687, 2013
The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and β-catenin
RZ Murray, LA Jolly, SA Wood
Molecular biology of the cell 15 (4), 1591-1599, 2004
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
LS Nguyen, L Jolly, C Shoubridge, WK Chan, L Huang, F Laumonnier, ...
Molecular psychiatry 17 (11), 1103-1115, 2012
Viperin is an important host restriction factor in control of Zika virus infection
KH Van der Hoek, NS Eyre, B Shue, O Khantisitthiporn, K Glab-Ampi, ...
Scientific reports 7 (1), 4475, 2017
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ...
The American Journal of Human Genetics 91 (4), 694-702, 2012
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, GM Mancini, R Pfundt, ...
The American Journal of Human Genetics 98 (2), 373-381, 2016
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis
S Stegeman, LA Jolly, S Premarathne, J Gecz, LJ Richards, ...
PloS one 8 (7), e68287, 2013
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase
L Paemka, VB Mahajan, SN Ehaideb, JM Skeie, MC Tan, S Wu, AJ Cox, ...
PLoS genetics 11 (3), e1005022, 2015
USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors
LA Jolly, V Taylor, SA Wood
Molecular biology of the cell 20 (7), 2015-2029, 2009
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
R Kumar, MA Corbett, BWM Van Bon, JA Woenig, L Weir, E Douglas, ...
The American Journal of Human Genetics 97 (2), 302-310, 2015
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
DT Pederick, CC Homan, EJ Jaehne, SG Piltz, BP Haines, BT Baune, ...
Scientific reports 6 (1), 26765, 2016
A Upf3b-mutant mouse model with behavioral and neurogenesis defects
L Huang, EY Shum, SH Jones, CH Lou, J Chousal, H Kim, AJ Roberts, ...
Molecular psychiatry 23 (8), 1773-1786, 2018
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
LA Jolly, LS Nguyen, D Domingo, Y Sun, S Barry, M Hancarova, ...
Human molecular genetics 24 (12), 3335-3347, 2015
Inhibition of Upf2-dependent nonsense-mediated decay leads to behavioral and neurophysiological abnormalities by activating the immune response
JL Johnson, L Stoica, Y Liu, PJ Zhu, A Bhattacharya, SA Buffington, ...
Neuron 104 (4), 665-679. e8, 2019
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy
CC Homan, S Pederson, TH To, C Tan, S Piltz, MA Corbett, E Wolvetang, ...
Neurobiology of Disease 116, 106-119, 2018
Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling
BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ...
Biological psychiatry 87 (2), 100-112, 2020
Usp9X controls ankyrin-repeat domain protein homeostasis during dendritic spine development
S Yoon, E Parnell, M Kasherman, MP Forrest, K Myczek, S Premarathne, ...
Neuron 105 (3), 506-521. e7, 2020
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