Search Results - "ANDRESEN, Brage Storstein"

CUGBP1 and MBNL1 preferentially bind to 3′ UTRs and facilitate mRNA decay by Masuda, Akio, Andersen, Henriette Skovgaard, Doktor, Thomas Koed, Okamoto, Takaaki, Ito, Mikako, Andresen, Brage Storstein, Ohno, Kinji

“…CUGBP1 and MBNL1 are developmentally regulated RNA-binding proteins that are causally associated with myotonic dystrophy type 1. We globally determined the in…”
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Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation by Keller, Josephine Geertsen, Hymøller, Kirstine Mejlstrup, Thorsager, Maria Eriksen, Hansen, Noriko Y, Erlandsen, Jens Uldum, Tesauro, Cinzia, Simonsen, Anne Katrine W, Andersen, Anne Bech, VandsøPetersen, Kamilla, Holm, Lise Lolle, Stougaard, Magnus, Andresen, Brage Storstein, Kristensen, Peter, Frøhlich, Rikke, Knudsen, Birgitta R

“…We have investigated the function of human topoisomerase 1 (TOP1) in regulation of G-quadruplex (G4) formation in the Pu27 region of the MYC P1 promoter. Pu27…”
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VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy by Alsing, Sidsel, Doktor, Thomas Koed, Askou, Anne Louise, Jensen, Emilie Grarup, Ahmadov, Ulvi, Kristensen, Lasse Sommer, Andresen, Brage Storstein, Aagaard, Lars, Corydon, Thomas J.

“…Retinal gene therapy using RNA interference (RNAi) to silence targeted genes requires both efficacy and safety. Short hairpin RNAs (shRNAs) are useful for…”
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Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia by Spangsberg Petersen, Ulrika Simone, Dembic, Maja, Martínez-Pizarro, Ainhoa, Richard, Eva, Holm, Lise Lolle, Havelund, Jesper Foged, Doktor, Thomas Koed, Larsen, Martin Røssel, Færgeman, Nils J., Desviat, Lourdes Ruiz, Andresen, Brage Storstein

“…Pseudoexons are nonfunctional intronic sequences that can be activated by deep-intronic sequence variation. Activation increases pseudoexon inclusion in mRNA…”
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Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption by Risom, Lotte, Christoffersen, Line, Daugaard-Jensen, Jette, Hove, Hanne Dahlgaard, Andersen, Henriette Skovgaard, Andresen, Brage Storstein, Kreiborg, Sven, Duno, Morten

“…Primary Failure of tooth Eruption (PFE) is a non-syndromic disorder which can be caused by mutations in the parathyroid hormone receptor 1 gene (PTH1R)…”
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The Y42H mutation in medium‐chain acyl‐CoA dehydrogenase, which is prevalent in babies identified by MS/MS‐based newborn screening, is temperature sensitive by O'Reilly, Linda, Bross, Peter, Corydon, Thomas J., Olpin, Simon E., Hansen, Jakob, Kenney, John M., McCandless, Shawn E., Frazier, Dianne M., Winter, Vibeke, Gregersen, Niels, Engel, Paul C, Storstein Andresen, Brage

“…Medium‐chain acyl‐CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the β‐oxidation of medium‐chain fatty acids…”
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Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells by Palhais, Bruno, Præstegaard, Veronica S, Sabaratnam, Rugivan, Doktor, Thomas Koed, Lutz, Seraina, Burda, Patricie, Suormala, Terttu, Baumgartner, Matthias, Fowler, Brian, Bruun, Gitte Hoffmann, Andersen, Henriette Skovgaard, Kožich, Viktor, Andresen, Brage Storstein

“…The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a…”
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A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation by Bruun, Gitte Hoffmann, Doktor, Thomas Koed, Andresen, Brage Storstein

“…In recent studies combining genome-wide association and tandem-MS based metabolic profiling, a single-nucleotide polymorphism (SNP), rs211718C>T, located far…”
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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening by Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft

“…Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the…”
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Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer by Nielsen, Karsten Bork, Sørensen, Suzette, Cartegni, Luca, Corydon, Thomas Juhl, Doktor, Thomas Koed, Schroeder, Lisbeth Dahl, Reinert, Line Sinnathamby, Elpeleg, Orly, Krainer, Adrian R., Gregersen, Niels, Kjems, Jørgen, Andresen, Brage Storstein

“…The idea that point mutations in exons may affect splicing is intriguing and adds an additional layer of complexity when evaluating their possible effects…”
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Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: Molecular pathology of mutations in PAH exon 11 by Heintz, Caroline, Dobrowolski, Steven F., Andersen, Henriette Skovgaard, Demirkol, Mübeccel, Blau, Nenad, Andresen, Brage Storstein

“…In about 20–30% of phenylketonuria (PKU) patients, phenylalanine (Phe) levels can be controlled by cofactor 6R-tetrahydrobiopterin (BH4) administration. The…”
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Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2 by Doktor, Thomas Koed, Schrøder, Lisbeth Dahl, Andersen, Henriette Skovgaard, Brøner, Sabrina, Kitewska, Anna, Sørensen, Charlotte Brandt, Andresen, Brage Storstein

“…Spinal Muscular Atrophy is caused by homozygous loss of SMN1. All patients retain at least one copy of SMN2 which produces an identical protein but at lower…”
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Sequence analysis of the Epstein-Barr virus (EBV) latent membrane protein-1 gene and promoter region : Identification of four variants among wild-type EBV isolates by SANDVEJ, K, GRATAMA, J. W, MUNCH, M, ZHOU, X.-G, BOLHUIS, R. L. H, ANDRESEN, B. S, GREGERSEN, N, HAMILTON-DUTOIT, S

“…Sequence variations in the Epstein-Barr virus (EBV) encoded latent membrane protein-1 (LMP-1) gene have been described in a Chinese nasopharyngeal…”
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DeepCLIP: predicting the effect of mutations on protein–RNA binding with deep learning by Grønning, Alexander Gulliver Bjørnholt, Doktor, Thomas Koed, Larsen, Simon Jonas, Petersen, Ulrika Simone Spangsberg, Holm, Lise Lolle, Bruun, Gitte Hoffmann, Hansen, Michael Birkerod, Hartung, Anne-Mette, Baumbach, Jan, Andresen, Brage Storstein

“…Abstract Nucleotide variants can cause functional changes by altering protein–RNA binding in various ways that are not easy to predict. This can affect…”
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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns by Doktor, Thomas Koed, Hua, Yimin, Andersen, Henriette Skovgaard, Brøner, Sabrina, Liu, Ying Hsiu, Wieckowska, Anna, Dembic, Maja, Bruun, Gitte Hoffmann, Krainer, Adrian R, Andresen, Brage Storstein

“…Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed…”
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CRISPR activation to characterize splice-altering variants in easily accessible cells by Terkelsen, Thorkild, Mikkelsen, Nanna Steengaard, Bak, Ebbe Norskov, Vad-Nielsen, Johan, Blechingberg, Jenny, Weiss, Simone, Drue, Simon Opstrup, Andersen, Henning, Andresen, Brage Storstein, Bak, Rasmus O., Jensen, Uffe Birk

“…Genetic variants that affect mRNA splicing are a major cause of hereditary disorders, but the spliceogenicity of variants is challenging to predict. RNA…”
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Reading through nonsense as therapy for propionic acidemia? by Andresen, Brage Storstein

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The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer by Palhais, Bruno, Dembic, Maja, Sabaratnam, Rugivan, Nielsen, Kira S., Doktor, Thomas Koed, Bruun, Gitte Hoffmann, Andresen, Brage Storstein

“…Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal…”
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Structural organization of the human short-chain acyl-CoA dehydrogenase gene by Corydon, M J, Andresen, B S, Bross, P, Kjeldsen, M, Andreasen, P H, Eiberg, H, Kølvraa, S, Gregersen, N

“…Short-chain acyl-CoA dehydrogenase (SCAD) is a homotetrameric mitochondrial flavoenzyme that catalyzes the initial reaction in short-chain fatty acid…”
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Danish expanded newborn screening is a successful preventive public health programme by Lund, Allan, Wibrand, Flemming, Skogstrand, Kristin, Cohen, Arieh, Christensen, Mette, Jäpelt, Rie Bak, Dunø, Morten, Skovby, Flemming, Nørgaard-Pedersen, Bent, Gregersen, Niels, Andresen, Brage Storstein, Olsen, Rikke Katrine Jentoft, Hougaard, David

“…Newborn screening is a public health programme for early diagnosis of treatable diseases. The subjects included were newborns born 2002-2019. Expanded newborn…”
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