Biochemistry (Scholarly Articles)
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Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
(Wiley, 2019-02-23)Genome‐wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of ... -
The awarding of the first honorary Doctor of Science by the Queen's University in Ireland to William King – a journey of scientific curiosity
(Royal Irish Academy, 2020)William King (1809 86) was the founding Professor of Mineralogy and Geology at Queen s College Galway (QCG), one of three regional colleges opened in 1849 to provide secular university-level education in Ireland. King came ... -
Inhibition of human BK polyomavirus replication by small noncoding RNAs
(American Society for Microbiology Journals, 2011)Small noncoding RNAs regulate a variety of cellular processes, including genomic imprinting, chromatin remodeling, replication, transcription, and translation. Here, we report small replication-regulating RNAs (srRNAs) ... -
Cell cycle-dependent mobility of Cdc45 determined in vivo by fluorescence correlation spectroscopy
(Public Library of Science, 2012-04-19)Eukaryotic DNA replication is a dynamic process requiring the co-operation of specific replication proteins. We measured the mobility of eGFP-Cdc45 by Fluorescence Correlation Spectroscopy (FCS) in vivo in asynchronous ... -
Cell cycle-dependent formation of Cdc45-Claspin complexes in human cells is compromized by UV-mediated DNA damage
(Wiley, 2013-08-02)The replication factor Cdc45 has essential functions in the initiation and elongation steps of eukaryotic DNA replication and plays an important role in the intra-S-phase checkpoint. Its interactions with other replication ... -
Optimizing fluorescent protein expression for quantitative fluorescence microscopy and spectroscopy using herpes simplex thymidine kinase promoter sequences
(Wiley, 2018-04-16)The modulation of expression levels of fluorescent fusion proteins (FFPs) is central for recombinant DNA technologies in modern biology as overexpression of proteins contributes to artifacts in biological experiments. In ... -
Alkoxyalkyl esters of nucleotide analogs inhibit polyomavirus DNA replication and large T antigen activities
(American Society for Microbiology Journals, 2020-12-07)Polyomavirus-related infections are ubiqutious in immunocompromised individuals and in some cases are intractable and fatal. Due to lack of approved drugs to treat polyomavirus infections, cidofovir, a phosphonate nucleotide ... -
SV40 T antigen interactions with ssDNA and replication protein A: a regulatory role of T antigen monomers in lagging strand DNA replication
(Oxford University Press (OUP), 2020-03-04)DNA replication is a central process in all living organisms. Polyomavirus DNA replication serves as a model system for eukaryotic DNA replication and has considerably contributed to our understanding of basic replication ... -
Cognitive analysis of schizophrenia risk genes that function as epigenetic regulators of gene expression
(Wiley, 2016-10-20)Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These ... -
Genes regulated by BCL11B during T‐cell development are enriched for de novo mutations found in schizophrenia patients
(Wiley, 2020-07-29)While abnormal neurodevelopment contributes to schizophrenia (SCZ) risk, there is also evidence to support a role for immune dysfunction in SCZ.BCL11B, associated with SCZ in genome-wide association study (GWAS), is a ... -
Altered gene regulation as a candidate mechanism by which ciliopathy gene SDCCAG8 contributes to schizophrenia and cognitive function
(Oxford University Press (OUP), 2019-12-23)Mutations in genes that encode centrosomal/ciliary proteins cause severe cognitive deficits, while common single-nucleotide polymorphisms in these genes are associated with schizophrenia (SZ) and cognition in genome-wide ... -
Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons
(Oxford University Press (OUP), 2020-09-25)Myocyte enhancer factor 2 C (MEF2C) is an important transcription factor during neurodevelopment. Mutation or deletion of MEF2C causes intellectual disability (ID) and common variants within MEF2C are associated with ... -
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis
(Oxford University Press (OUP), 2014-01-28)Identifying rare, highly penetrant risk mutations may be an important step in dissecting the molecular etiology of schizophrenia. We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in ... -
Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
(Springer Nature, 2013-10-15)Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes ... -
RNA from a simple-tandem repeat is required for sperm maturation and male fertility in Drosophila melanogaster
(eLife Sciences Publications, 2019-11-05)Tandemly-repeated DNAs, or satellites, are enriched in heterochromatic regions of eukaryotic genomes and contribute to nuclear structure and function. Some satellites are transcribed, but we lack direct evidence that ... -
Determination of the number of RAD51 molecules in different human cell lines
(Taylor & Francis, 2019-11-15)Knowledge about precise numbers of specific molecules is necessary for understanding and verification of biological pathways. The RAD51 protein is central in the repair of DNA double-strand breaks (DSBs) by homologous ... -
ATPase activity of human binding immunoglobulin protein (BiP) variants is enhanced by signal sequence and physiological concentrations of Mn2+
(Wiley Open Access, 2019-08-29)B-cell immunoglobulin binding protein (BiP) is an essential endoplasmic reticulum (ER) chaperone normally found in the ER lumen. However, BiP also has other extracellular and intracellular functions. As it is unclear whether ... -
RIP2 enhances cell survival by activation of NF-ĸB in triple negative breast cancer cells
(Elsevier, 2018-02-06)Receptor-interacting protein 2 (RIP2) is an essential mediator of inflammation and innate immunity, but little is known about its role outside the immune system. Recently, RIP2 has been linked to chemoresistance of triple ... -
Stress management at the ER: regulators of ER stress-induced apoptosis.
(Elsevier, 2012-02-17)The endoplasmic reticulum (ER) is an elaborate cellular organelle essential for cell function and survival. Conditions that interfere with ER function lead to the accumulation and aggregation of unfolded proteins which are ... -
Generation of rationally-designed nerve growth factor (NGF) variants with receptor specificity
(Elsevier, 2017-11-03)Nerve growth factor (NGF) is the prototypic member of the neurotrophin family and binds two receptors, TrkA and the 75 kDa neurotrophin receptor (p75NTR), through which diverse and sometimes opposing effects are mediated. ...