Search Results - "Berglund, J Andrew"
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Role of RNA structure in regulating pre-mRNA splicing
Published in Trends in biochemical sciences (Amsterdam. Regular ed.) (01-03-2010)“…Pre-mRNA splicing involves removing non-coding introns from RNA transcripts. It is carried out by the spliceosome, along with other auxiliary factors. In…”
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Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Published in Human molecular genetics (15-04-2019)“…Abstract Myotonic dystrophy (dystrophia myotonica, DM) is a multi-systemic disease caused by expanded CTG or CCTG microsatellite repeats. Characterized by…”
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Alternative Splicing Outcomes Across an RNA-Binding Protein Concentration Gradient
Published in Journal of molecular biology (01-08-2023)“…[Display omitted] •An MBNL1- and RBFOX1-inducible HEK-293 cell line used to characterize alternative splicing.•RBFOX1 modulated alternative spicing outcomes,…”
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Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility
Published in The Journal of biological chemistry (10-03-2017)“…Myotonic dystrophy type 2 is a genetic neuromuscular disease caused by the expression of expanded CCUG repeat RNAs from the non-coding region of the CCHC-type…”
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Pentamidine reverses the splicing defects associated with myotonic dystrophy
Published in Proceedings of the National Academy of Sciences - PNAS (03-11-2009)“…Myotonic dystrophy (DM) is a genetic disorder caused by the expression (as RNA) of expanded CTG or CCTG repeats. The alternative splicing factor MBNL1 is…”
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Disease-associated inosine misincorporation into RNA hinders translation
Published in Nucleic acids research (09-09-2022)“…Abstract Failure to prevent accumulation of the non-canonical nucleotide inosine triphosphate (ITP) by inosine triphosphate pyrophosphatase (ITPase) during…”
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Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy
Published in PLoS genetics (28-09-2016)“…Alternative splicing is a regulated process that results in expression of specific mRNA and protein isoforms. Alternative splicing factors determine the…”
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Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models
Published in Cell reports (Cambridge) (22-12-2015)“…Myotonic dystrophy type 1 (DM1) is an inherited disease characterized by the inability to relax contracted muscles. Affected individuals carry large CTG…”
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Mitigating RNA Toxicity in Myotonic Dystrophy using Small Molecules
Published in International journal of molecular sciences (17-08-2019)“…This review, one in a series on myotonic dystrophy (DM), is focused on the development and potential use of small molecules as therapeutics for DM. The complex…”
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An engineered RNA binding protein with improved splicing regulation
Published in Nucleic acids research (06-04-2018)“…Abstract The muscleblind-like (MBNL) family of proteins are key developmental regulators of alternative splicing. Sequestration of MBNL proteins by expanded…”
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A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels
Published in Proceedings of the National Academy of Sciences - PNAS (15-10-2019)“…A CTG repeat expansion in the DMPK gene is the causative mutation of myotonic dystrophy type 1 (DM1). Transcription of the expanded CTG repeat produces toxic…”
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Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice
Published in Human molecular genetics (25-02-2021)“…C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the…”
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Autoregulated Splicing of muscleblind-like 1 (MBNL1) Pre-mRNA
Published in The Journal of biological chemistry (30-09-2011)“…Muscleblind-like 1 (MBNL1) is a splicing factor whose improper cellular localization is a central component of myotonic dystrophy. In myotonic dystrophy, the…”
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The potential of engineered eukaryotic RNA‐binding proteins as molecular tools and therapeutics
Published in Wiley interdisciplinary reviews. RNA (01-01-2020)“…Eukaroytic RNA‐binding proteins (RBPs) recognize and process RNAs through recognition of their sequence motifs via RNA‐binding domains (RBDs). RBPs usually…”
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Asian Zika Virus Isolate Significantly Changes the Transcriptional Profile and Alternative RNA Splicing Events in a Neuroblastoma Cell Line
Published in Viruses (05-05-2020)“…The alternative splicing of pre-mRNAs expands a single genetic blueprint to encode multiple, functionally diverse protein isoforms. Viruses have previously…”
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protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing
Published in Proceedings of the National Academy of Sciences - PNAS (09-06-2009)“…Myotonic dystrophy type 1 (DM1) is a genetic disorder linked to a (CTG)n repeat expansion in the 3' untranslated region of the DMPK gene. Upon transcription in…”
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Three-Dimensional Real-Time Tracking of Nanoparticles at an Oil–Water Interface
Published in Langmuir (26-06-2012)“…Single-particle tracking with real-time feedback control can be used to study three-dimensional nanoparticle transport dynamics. We apply the method to study…”
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Biological Efficacy and Toxicity of Diamidines in Myotonic Dystrophy Type 1 Models
Published in Journal of medicinal chemistry (13-08-2015)“…Myotonic dystrophy type 1 (DM1) is a disease characterized by errors in alternative splicing, or “mis-splicing”. The causative agent of mis-splicing in DM1 is…”
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CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity
Published in EMBO molecular medicine (08-11-2021)“…Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that…”
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Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy
Published in Disease models & mechanisms (01-06-2021)“…The muscleblind RNA binding proteins (MBNL1, MBNL2, and MBNL3) are highly conserved across vertebrates and are important regulators of RNA alternative…”
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