Wouter Beumer
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Antisense oligonucleotide therapy for the common Stargardt disease type 1-causing variant in <i>ABCA4</i> Open
The c.5461-10T>C p.[Thr1821Aspfs*6,Thr1821Valfs*13] variant has been identified as the most common severe Stargardt disease type 1 (STGD1)-associated variant in ABCA4 . STGD1 is the most recurrent hereditary form of maculopathy and so far,…
A pathogenic proteolysis–resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function Open
Huntington's disease (HD) is a late-onset neurological disorder for which therapeutics are not available. Its key pathological mechanism involves the proteolysis of polyglutamine-expanded (polyQ-expanded) mutant huntingtin (mHTT), which ge…
Improving Translation by Identifying Evidence for More Human-Relevant Preclinical Strategies Open
Preclinical animal studies are performed to analyse the safety and efficacy of new treatments, with the aim to protect humans. However, there are questions and concerns about the quality and usefulness of preclinical animal research. Trans…
Evaluation of eluforsen, a novel RNA oligonucleotide for restoration of CFTR function in in vitro and murine models of p.Phe508del cystic fibrosis Open
Cystic fibrosis (CF) is caused by mutations in the gene encoding the epithelial chloride channel CF transmembrane conductance regulator (CFTR) protein. The most common mutation is a deletion of three nucleotides leading to the loss of phen…
The Cystic Fibrosis-Like Airway Surface Layer Is not a Significant Barrier for Delivery of Eluforsen to Airway Epithelial Cells Open
Background: Eluforsen (previously known as QR-010) is a 33-mer antisense oligonucleotide under development for oral inhalation in cystic fibrosis (CF) patients with the delta F508 mutation. Previous work has shown that eluforsen restores C…
ABSTRACTS 1st AUGUST CONFERENCE AARHUS UNIVERSITY GROUP FOR UNDERSTANDING SYSTEMATIC REVIEWS AND METAANALYSES IN TRANSLATIONAL PRECLINICAL SCIENCE November 17th 2015 Aarhus, Denmark Open
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