Gabrielle Wheway's Outputs (26)

WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1 (2020)
Journal Article

Dysregulated alternative splicing plays a prominent role in all hallmarks of cancer. The splice factor kinase SRPK1 drives the activity of oncogenic splice factors such as SRSF1. SRSF1 in turn promotes the expression of splice isoforms that favour tu... Read More about WT1 activates transcription of the splice factor kinase SRPK1 gene in PC3 and K562 cancer cells in the absence of corepressor BASP1.

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy (2020)
Journal Article

Pathogenic variants in pre-messenger RNA (pre-mRNA) splicing factor 31, PRPF31, are the second most common genetic cause of autosomal dominant retinitis pigmentosa (adRP) in most populations. This remains a completely untreatable and incurable form o... Read More about Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa (2018)
Journal Article

© 2018, The Author(s). Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed genes cause non-syndromic retinal disease. Here, we generate transcr... Read More about Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa.

Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications (2018)
Journal Article

© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Abstract: There is an incentive to functionalise hydroxyapatite (HA) for orthopaedic implant use with bioactive agents to encourage superior integration of the implants into host... Read More about Development and biological evaluation of fluorophosphonate-modified hydroxyapatite for orthopaedic applications.

Signaling through the primary cilium (2018)
Journal Article

© 2018 Wheway, Nazlamova and Hancock. The presence of single, non-motile "primary" cilia on the surface of epithelial cells has been well described since the 1960s. However, for decades these organelles were believed to be vestigial, with no remainin... Read More about Signaling through the primary cilium.

Meckel-Gruber syndrome: An update on diagnosis, clinical management, and research advances (2017)
Journal Article

© 2017 Hartill, Szymanska, Sharif, Wheway and Johnson. Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary... Read More about Meckel-Gruber syndrome: An update on diagnosis, clinical management, and research advances.

Particle sorting by Paramecium cilia arrays (2017)
Journal Article

© 2017 Elsevier B.V. Motile cilia are cell-surface organelles whose purposes, in ciliated protists and certain ciliated metazoan epithelia, include generating fluid flow, sensing and substance uptake. Certain properties of cilia arrays, such as beati... Read More about Particle sorting by Paramecium cilia arrays.

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes (2015)
Journal Article

Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe the first whole genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining... Read More about A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway (2015)
Journal Article

© 2015. Published by The Company of Biologists Ltd. Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert synd... Read More about The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes (2015)
Journal Article

© 2015 Macmillan Publishers Limited. Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of... Read More about An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis (2015)
Journal Article

©2015. To investigate the contribution of ion channels to ciliogenesis, we carried out a small interfering RNA (siRNA)-based reverse genetics screen of all ion channels in the mouse genome in murine inner medullary collecting duct kidney cells. This... Read More about Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis (2014)
Journal Article

© 2014. Initially identified in DNA damage repair, ATM-interactor (ATMIN) further functions as a transcriptional regulator of lung morphogenesis. Here we analyse three mouse mutants, Atmingpg6/gpg6, AtminH210Q/H210Q and Dynll1GT/GT, revealing how ATM... Read More about Atmin is a transcriptional regulator of both lung morphogenesis and ciliogenesis.

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (2014)
Journal Article

Mitochondrial Ca 2+ uptake has key roles in cell life and death. Physiological Ca 2+ signaling regulates aerobic metabolism, whereas pathological Ca 2+ overload triggers cell death. Mitochondrial Ca 2+ uptake is mediated by the Ca 2+ uniporter comple... Read More about Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.

The role of primary cilia in the development and disease of the retina (2013)
Journal Article

The normal development and function of photoreceptors is essential for eye health and visual acuity in vertebrates. Mutations in genes encoding proteins involved in photoreceptor development and function are associated with a suite of inherited retin... Read More about The role of primary cilia in the development and disease of the retina.

The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium (2013)
Journal Article

The multinational SYSCILIA consortium aims to gain a mechanistic understanding of the cilium. We utilize multiple parallel high-throughput (HTP) initiatives to develop predictive models of relationships between complex genotypes and variable phenotyp... Read More about The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium.

Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome (2013)
Journal Article

Meckel-Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding proteins localising to the primary cilium. Mutations in the basal body protein MKS1 account for 7% of cases of MKS. The condition affects the de... Read More about Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.

Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel - Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects (2013)
Journal Article

The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mu... Read More about Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel - Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and wnt signalling defects.

Meckel-Gruber syndrome (2013)
Book Chapter

Epidemiology, Clinical features, Range of the phenotype, Diagnosis, Interesring features of the condition, Genetics, Underlying ciliary defect, Physiological effect of the ciliary defect, Clinical management

Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies (2012)
Journal Article

HHARI (also known as ARIH1) is an ubiquitin-protein ligase and is the cognate of the E2, UbcH7 (UBE2L3). To establish a functional role for HHARI in cellular proliferation processes, we performed a reverse genetics screen that identified n=86/522 (16... Read More about Human Homolog of Drosophila Ariadne (HHARI) is a marker of cellular proliferation associated with nuclear bodies.

A meckelin-filamin a interaction mediates ciliogenesis (2012)
Journal Article

MKS3, encoding the transmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive ciliopathy. Meckelin localizes to the primary cilium, basal body and elsewhere within the cell. Here, we found that the cytoplasmic... Read More about A meckelin-filamin a interaction mediates ciliogenesis.

MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways (2012)
Journal Article

MKS1, a ciliary protein containing a B9 domain of unknown function, plays an important role in ciliogenesis. Mutation of the MKS1 gene causes the neonatal lethal multi-organ developmental condition Meckel-Gruber syndrome, characterized by severe cili... Read More about MKS1 interacts with components of the ubiquitin-proteasome pathway to regulate ciliogenesis and multiple signalling pathways.

High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance (2012)
Journal Article

Cilia are small, hair-like structures occurring on the apical surface of most of vertebrate cells. Defects in cilia cause a range of developmental phenotypes grouped into conditions called ciliopathies. Our aim is to dissect the structure and functio... Read More about High throughput high content reverse genetics visual screens of ciliogenesis and cilia maintenance.

Molecular genetics and functional characterization of ciliopathies (2011)
Thesis

Primary cilia are microtubule-based organelles projecting from most epithelial cells in vertebrates, with numerous essential roles in chemo- and mechanosensation. A suite of inherited human conditions are caused by defects in the structure or functio... Read More about Molecular genetics and functional characterization of ciliopathies.

Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome (2010)
Journal Article

Primary cilia are mechano- and chemosensory organelles that have a fundamental role in regulating embryogenesis. Inherited disorders that involve aberrant ciliary structure or function are now known as “ciliopathies”, and they invariably present with... Read More about Defects in non-canonical Wnt signalling and actin cytoskeleton remodelling as pathogenic mechanisms in Meckel–Gruber syndrome.

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton (2009)
Journal Article

Meckel-Gruber syndrome (MKS) is a severe autosomal recessively inherited disorder caused by mutations in genes that encode components of the primary cilium and basal body. Here we show that two MKS proteins, MKS1 and meckelin, that are required for c... Read More about Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton (2009)
Journal Article

MKS3, encoding a novel trans-membrane receptor, meckelin with similarity to frizzled proteins, is mutated in Meckel–Gruber syndrome (MKS), an autosomal recessive lethal ciliopathy.

Meckelin is a ciliary protein, but it also localises to the actin... Read More about Mutations in the lethal ciliopathy Meckel–Gruber syndrome alter the subcellular distribution of actin-binding proteins and disrupt the actin cytoskeleton.