1,721,017 research outputs found
Repeat Repeat. (CTG)n expansion and myogenesis in DM1
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213671.pdf (Publisher’s version ) (Open Access)Radboud University, 07 januari 2020Promotor : Wieringa, B. Co-promotor : Wansink, D.G
Expression and fate of normal and expanded transcripts of the myotonic dystrophy type 1 locus
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178285.pdf (Publisher’s version ) (Open Access)Radboud University, 08 november 2017Promotor : Wieringa, B. Co-promotor : Wansink, D.G
Antisense oligonucleotides as therapeutics for myotonic dystrophy - delivery and mechanisms of action
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220179.pdf (Publisher’s version ) (Open Access)Radboud University, 27 augustus 2020Promotor : Brock, R.E. Co-promotor : Wansink, D.G
Myotronic Dystrophy Protein Kinase Splice Isoforms. A Study of Structure-Function Relationships.
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50033.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 06 juni 2006Promotor : Wieringa, B. Co-promotor : Wansink, D.G.159 p
Molecular aspects of myotonic dystrophy type 1, expression and silencing of DMPK gene products.
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91254.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 13 mei 2011Promotor : Wieringa, B. Co-promotor : Wansink, D.G.191 p
DMPK E and Lats2 in the cell division cycle. Study of two AGC kinases
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110769.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 05 april 2012Promotor : Wieringa, B. Co-promotores : Hendriks, W.J.A.J., Wansink, D.G
DMPK isoforms in muscle and brain cells. Localization and function.
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85871.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 01 april 2011Promotor : Wieringa, B. Co-promotores : Wansink, D.G., Fransen, J.A.M.157 p
Molecular and preclinical aspects of antisense oligonucleotide treatment for myotonic dystrophy type 1
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166585.pdf (Publisher’s version ) (Open Access)Myotonic Dystrophy type 1 (DM1) is a genetic disorder caused by an expansion of a (CTG)n repeat in the DMPK gene, which is carried by all individuals, but normally contains less than 37 triplets. Only when this threshold is exceeded the person carrying it will develop DM1, with an age of onset and severity that loosely correlates with (CTG)n length: the longer the repeat, the sooner symptoms occur and the more severe they are. DM1 was the first disease ever described for which the underlying cause of the pathology involves an RNA gain of function of transcripts coming from a mutated gene. DMPK transcripts with long (CUG)n repeats constitute a toxic entity, causing a wide variety of downstream effects and symptoms. Currently, there is no cure available for DM1.
Antisense oligonucleotides (AONs) complementary to the (CUG)n repeat constitute a promising tool for treatment of DM1. We performed a broad screening of chemically modified (CAG)n AONs for their ability to reduce expanded DMPK mRNA levels. We found that AON chemistry is an important determinant of silencing efficacy: 2’ O methyl/phosphorothioate (2’ OMe/PS) modifications were most effective and selective against disease-related transcripts, reverting in part the characteristic DM1 gene expression profile. Since we did not find evidence for muscle permeability to large molecules in DM1 patients, we investigated how AONs are internalized by muscle cells to improve delivery of these therapeutic molecules. Free uptake (also known as gymnosis) of 2’ OMe/PS AONs in myogenic cell cultures was rather efficient, mediated by endocytosis and leading to a robust effect in RNA targets in the nucleus. These results will improve AON mediated strategies, not only for myotonic dystrophy but also for related neuromuscular diseases caused by similar expansion mutations, like Huntington's disease and ALS.Radboud University, 06 februari 2017Promotor : Wieringa, B. Co-promotor : Wansink, D.G
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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