Design and Analysis of Effects of Triplet Repeat Oligonucleotides in Cell Models for Myotonic Dystrophy

Autor: Anchel González-Barriga, Susan AM Mulders, Jeroen van de Giessen, Jeroen D Hooijer, Suzanne Bijl, Ingeborg DG van Kessel, Josee van Beers, Judith CT van Deutekom, Jack AM Fransen, Bé Wieringa, Derick G Wansink

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 2, Iss C (2013)

Myotonic dystrophy type 1 (DM1) is caused by DM protein kinase (DMPK) transcripts containing an expanded (CUG)n repeat. Antisense oligonucleotide (AON)-mediated suppression of these mutant RNAs is considered a promising therapeutic strategy for this

Externí odkaz: https://doaj.org/article/e1ac78deefa247bd9ae098816a38c96d

Using a State-of-the-Art Toolbox to Evaluate Molecular and Functional Readouts of Antisense Oligonucleotide-Induced Exon Skipping in

Autor: Rani van den Eijnde, Jukka Puoliväli, Anneke A.M. Janson, Toni Ahtoniemi, Janwillem Testerink, Nicole A. Datson, Kimmo Lehtimäki, Suzanne Bijl, Judith C.T. van Deutekom, Rudie Weij, Timo Bragge

Publikováno v: Nucleic Acid Therapeutics

Duchenne muscular dystrophy (DMD) is a severe childhood muscle disease primarily caused by the lack of functional dystrophin at the muscle fiber membranes. Multiple therapeutic approaches are currently in (pre)clinical development, aimed at restoring

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f2b225baf73b85e079edc2c98b361c
https://pubmed.ncbi.nlm.nih.gov/31821107

Cell membrane integrity in myotonic dystrophy type 1: implications for therapy

Autor: Derick G. Wansink, Walther J. A. A. van den Broek, Judith C.T. van Deutekom, Suzanne Bijl, Anchel González-Barriga, Ingeborg D.G. van Kessel, Bé Wieringa, Julia Kranzen, H.J.E. Croes, Baziel G.M. van Engelen, Susan A. M. Mulders

Publikováno v: PLoS ONE
PLoS One, 10, 3
PLoS ONE, Vol 10, Iss 3, p e0121556 (2015)
PLoS One, 10

Contains fulltext : 154719.pdf (Publisher’s version ) (Open Access) Myotonic Dystrophy type 1 (DM1) is a multisystemic disease caused by toxic RNA from a DMPK gene carrying an expanded (CTG*CAG)n repeat. Promising strategies for treatment of DM1 pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54ff32d2a42b406e64a60b483f7f2219
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/154719

Associations Between Alcohol Intake and Brain Volumes in Male and Female Moderate Drinkers

Autor: J. Leon Kenemans, Suzanne Bijl, Hugo G. Schnack, René S. Kahn, Koen B.E. Böcker, Marinus N. Verbaten, Hilleke E. Hulshoff Pol, Eveline A. de Bruin, Sjoerd B. A. H. A. Fluitman

Publikováno v: Alcoholism: Clinical & Experimental Research. 29:656-663

Background: Alcohol-dependent individuals have brain volume loss. Possibly, moderate drinkers who are not alcohol dependent have similar but less prominent brain damage. The authors investigated whether current or lifetime alcohol intake is related t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580c20c5f1b680249da1512f5f07942f
https://doi.org/10.1097/01.alc.0000159110.17351.c0

Abnormal EEG synchronisation in heavily drinking students

Autor: Koen B.E. Böcker, Marinus N. Verbaten, Eveline A. de Bruin, Cornelis J. Stam, J. Leon Kenemans, Suzanne Bijl

Publikováno v: de Bruin, E A, Bijl, S, Stam, C J, Böcker, K B E, Kenemans, J L & Verbaten, M N 2004, ' Abnormal EEG synchronisation in heavily drinking students ', Clinical Neurophysiology, vol. 115, no. 9, pp. 2048-55 . https://doi.org/10.1016/j.clinph.2004.04.010
Clinical Neurophysiology, 115(9), 2048-55. Elsevier Ireland Ltd

OBJECTIVE: In alcoholics, grey and white brain matter is damaged. In addition, functional brain connectivity as measured by EEG coherence is abnormal. We investigated whether heavily drinking students, although drinking for a shorter period than alco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9122b2220c49efeb5200512a3d97cb4c
https://doi.org/10.1016/j.clinph.2004.04.010