Lachlan A. Jolly
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View article: Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders
Genetic disruption of nonsense-mediated mRNA decay in neurodevelopmental disorders Open
Nonsense-mediated mRNA decay (NMD) is a translation-dependent mRNA decay mechanism that serves the purpose of controlling both mRNA quality and quantity. As a quality control mechanism, NMD protects organisms against the deleterious effect…
View article: RNA variant assessment using transactivation and transdifferentiation
RNA variant assessment using transactivation and transdifferentiation Open
View article: Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway Open
Clustering Epilepsy (CE) is a neurological disorder caused by pathogenic variants of the Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell adhesion and Estrogen Receptor α mediated-gene regulation. To gain further i…
View article: Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment Open
View article: Transactivation of cell lines for functional genomic studies
Transactivation of cell lines for functional genomic studies Open
View article: Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines
Endogenous protein interactomes resolved through immunoprecipitation-coupled quantitative proteomics in cell lines Open
View article: Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants Open
View article: The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders
The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders Open
View article: Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome?
Vav Proteins in Development of the Brain: A Potential Relationship to the Pathogenesis of Congenital Zika Syndrome? Open
Zika virus (ZIKV) infection during pregnancy can result in a significant impact on the brain and eye of the developing fetus, termed congenital zika syndrome (CZS). At a morphological level, the main serious presentations of CZS are microc…
View article: Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells
Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells Open
View article: Integrated in silico and experimental assessment of disease relevance of <i>PCDH19</i> missense variants
Integrated in silico and experimental assessment of disease relevance of <i>PCDH19</i> missense variants Open
PCDH19 is a nonclustered protocadherin molecule involved in axon bundling, synapse function, and transcriptional coregulation. Pathogenic variants in PCDH19 cause infantile-onset epilepsy known as PCDH19-clustering epilepsy or PCDH19-CE. R…
View article: Missense variant contribution to USP9X-female syndrome
Missense variant contribution to USP9X-female syndrome Open
View article: A synonymous <i>UPF3B</i> variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks
A synonymous <i>UPF3B</i> variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks Open
Loss-of-function mutations of the X-chromosome gene UPF3B cause male neurodevelopmental disorders (NDDs) via largely unknown mechanisms. We investigated initially by interrogating a novel synonymous UPF3B variant in a male with absent spee…
View article: Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development
Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development Open
View article: Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response
Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response Open
View article: PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy
PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy Open
View article: A Upf3b-mutant mouse model with behavioral and neurogenesis defects
A Upf3b-mutant mouse model with behavioral and neurogenesis defects Open
View article: Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors
Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors Open
View article: Viperin is an important host restriction factor in control of Zika virus infection
Viperin is an important host restriction factor in control of Zika virus infection Open
View article: Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis Open
View article: USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors Open
View article: Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice Open
View article: De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations Open
View article: Increased<i>STAG2</i>dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Increased<i>STAG2</i>dosage defines a novel cohesinopathy with intellectual disability and behavioral problems Open
Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intelle…
View article: THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability Open
View article: Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase Open
Epilepsy is a common disabling disease with complex, multifactorial genetic and environmental etiology. The small fraction of epilepsies subject to Mendelian inheritance offers key insight into epilepsy disease mechanisms; and pathologies …
View article: HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain Open
Both gain- and loss-of-function mutations have recently implicated HCFC1 in neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression studies by employing short hairpin RNA to reduce the expression of Hcfc1 in embryo…
View article: La FAM fatale: USP9X in development and disease
La FAM fatale: USP9X in development and disease Open