Browsing by Subject "Zebrafish"
Now showing items 1-20 of 27
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Conserved roles for Hnf4 family transcription factors in zebrafish development and intestinal function.
(2022-11-30)Transcription factors play important roles in the development of the intestinal epithelium and its ability to respond to endocrine, nutritional, and microbial signals. Hepatocyte nuclear factor 4 family nuclear receptors ... -
Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly.
(2013-09-17)Centrioles organise centrosomes and template cilia and flagella. Several centriole and centrosome proteins have been linked to microcephaly (MCPH), a neuro-developmental disease associated with small brain size. CPAP (MCPH6) ... -
Decarboxylative Transformations: Synthetic Applications and Mechanistic Investigations Submitted
(Queen Mary University of London, 17/02/2015)and biological sources. Recent advances in decarboxylative activation has allowed for the application of these reagents as building-blocks in organic synthesis; presenting viable, green alternatives to traditional ... -
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
(Springer Nature, 2024-03-01)In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ... -
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
(2018-05-29)Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality ... -
Gaucher disease protects against tuberculosis.
(2023-02-14)Biallelic mutations in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. Gaucher and other lysosomal diseases occur ... -
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.
(2013-12-12)The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Intranuclear neuronal RNA foci have been observed in ALS ... -
Identifying novel genes associated with response to nicotine in a zebrafish model of drug dependence.
(Queen Mary University of London, 2015-02)Tobacco addiction is a leading preventable cause of death worldwide and places a heavy social and financial burden on society. There exists a substantial genetic variability in smoking behavior, the mechanisms of which ... -
Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.
(2016-04)Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and ... -
mTOR-regulated mitochondrial metabolism limits mycobacterium-induced cytotoxicity.
(2022-09-29)Necrosis of macrophages in the granuloma, the hallmark immunological structure of tuberculosis, is a major pathogenic event that increases host susceptibility. Through a zebrafish forward genetic screen, we identified the ... -
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
(2012-05)Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we ... -
The ontogeny of continuous quantity discrimination in zebrafish larvae (Danio rerio).
(Springer, 2020-04-15)Several studies have investigated the ontogeny of the capacity to discriminate between discrete numerical information in human and non-human animals. Contrarily, less attention has been devoted to the development of the ... -
RE-CENTRING MIGRANT ENTERPRISE GEOGRAPHIES: TRANSLOCAL GHANAIAN AND POLISH ENTERPRISE WITHIN AND THROUGH LONDON
(Queen Mary University of London, 20/01/2015)In the wake of financial crisis the UK Coalition government has emphasised an ‘enterprise for all’ agenda for economic growth that, paradoxically, marginalises migrant entrepreneurs within an ‘immigrant reduction’ agenda. ... -
The role of contraction in skeletal muscle development
(Queen Mary University of London, 2015-08)The aim of this project was to determine the role of contraction in skeletal muscle development. The role of the initial spontaneous contractions observed in zebrafish embryos from 17 to 24 hours post fertilisation was ... -
Size discrimination in adult zebrafish (Danio rerio): Normative data and individual variation.
(2020-01-24)In humans, aging and neurodegenerative diseases have been found to be associated with impairment in both mathematical abilities and estimation of continuous quantities such as size, weight or distance. Zebrafish (Danio ... -
SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function.
(2017-03)Genome-wide association studies have identified >50 common variants associated with kidney function, but these variants do not fully explain the variation in eGFR. We performed a two-stage meta-analysis of associations ... -
Spinal motor neurons are regenerated after mechanical lesion and genetic ablation in larval zebrafish.
(2016-05-01)In adult zebrafish, relatively quiescent progenitor cells show lesion-induced generation of motor neurons. Developmental motor neuron generation from the spinal motor neuron progenitor domain (pMN) sharply declines at ...