المؤلفون: Spangsberg Petersen, Ulrika Simone, Dembic, Maja, Martínez Pizarro, Ainhoa, Richard Rodríguez, Eva María, Holm, Lise Lolle, Havelund, Jesper Foged, Doktor, Thomas Koed, Larsen, Martin Røssel, Færgeman, Nils J., Ruiz Desviat, Lourdes, Andresen, Brage Storstein

مصطلحات موضوعية: Cryptic splicing, metabolic disorder, MT: Oligonucleotides: Therapies and Applications, pre-mRNA splicing, propionic acidemia, propionyl-CoA carboxylase, pseudoexon, splice-switching antisense oligonucleotides, Targeted Augmentation of Nuclear Gene output (TANGO), PCCA, Biología y Biomedicina / Biología, Matemáticas, Química

وصف الملف: application/pdf

Relation: Molecular Therapy Nucleic Acids; https://doi.org/10.1016/j.omtn.2023.102101; Gobierno de España. PID2019-105344RB-I00; Molecular Therapy Nucleic Acids 35.1 (2023): 102101; http://hdl.handle.net/10486/712095; 102101-1; 102101-15; 35

الاتاحة: http://hdl.handle.net/10486/712095
https://doi.org/10.1016/j.omtn.2023.102101

المؤلفون: Martínez-Pizarro, Ainhoa, Leal, Fátima, Holm, Lise Lolle, Doktor, Thomas K, Petersen, Ulrika S S, Bueno, María, Thöny, Beat, Pérez, Belén, Andresen, Brage S, Desviat, Lourdes R

المصدر: Martínez-Pizarro, Ainhoa; Leal, Fátima; Holm, Lise Lolle; Doktor, Thomas K; Petersen, Ulrika S S; Bueno, María; Thöny, Beat; Pérez, Belén; Andresen, Brage S; Desviat, Lourdes R (2022). Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene. Nucleic Acid Therapeutics, 32(5):378-390.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/228801/1/nat.2021.0066.pdf; info:pmid/35833796; urn:issn:2159-3337

الاتاحة: https://www.zora.uzh.ch/id/eprint/228801/
https://www.zora.uzh.ch/id/eprint/228801/1/nat.2021.0066.pdf
https://doi.org/10.1089/nat.2021.0066

المؤلفون: Keller, Josephine Geertsen, Hymøller, Kirstine Mejlstrup, Thorsager, Maria Eriksen, Hansen, Noriko Y., Erlandsen, Jens Uldum, Tesauro, Cinzia, Simonsen, Anne Katrine W., Andersen, Anne Bech, Vandsø Petersen, Kamilla, Holm, Lise Lolle, Stougaard, Magnus, Andresen, Brage Storstein, Kristensen, Peter, Frøhlich, Rikke, Knudsen, Birgitta R.

المصدر: Keller , J G , Hymøller , K M , Thorsager , M E , Hansen , N Y , Erlandsen , J U , Tesauro , C , Simonsen , A K W , Andersen , A B , Vandsø Petersen , K , Holm , L L , Stougaard , M , Andresen , B S , Kristensen , P , Frøhlich , R & Knudsen , B R 2022 , ' Topoisomerase 1 inhibits MYC promoter activity by inducing G-quadruplex formation ' , Nucleic Acids Research , vol. 50 , no. 11 , pp. 6332-6342 . ....

Relation: https://pure.au.dk/portal/da/publications/topoisomerase-1-inhibits-myc-promoter-activity-by-inducing-gquadruplex-formation(fb162675-de9a-4c04-9b99-eb71e78923d5).html

الاتاحة: https://pure.au.dk/portal/da/publications/topoisomerase-1-inhibits-myc-promoter-activity-by-inducing-gquadruplex-formation(fb162675-de9a-4c04-9b99-eb71e78923d5).html
https://doi.org/10.1093/nar/gkac482
http://www.scopus.com/inward/record.url?scp=85136021085&partnerID=8YFLogxK

المؤلفون: Holm, Lise Lolle, Doktor, Thomas Koed, Hansen, Michael Birkerod, Petersen, Ulrika Simone Spangsberg, Andresen, Brage Storstein

المصدر: Holm , L L , Doktor , T K , Hansen , M B , Petersen , U S S & Andresen , B S 2022 , ' Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers ' , Human Mutation , vol. 43 , no. 2 , pp. 253-265 . https://doi.org/10.1002/humu.24321

وصف الملف: application/pdf

Relation: https://portal.findresearcher.sdu.dk/da/publications/ea003924-7c88-4e98-a49c-395ccbaafd7c

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/ea003924-7c88-4e98-a49c-395ccbaafd7c
https://doi.org/10.1002/humu.24321
https://findresearcher.sdu.dk/ws/files/199866762/humu.24321.pdf

المؤلفون: 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

المصدر: Grønning , A G B , Doktor , T K , Larsen , S J , Petersen , U S S , Holm , L L , Bruun , G H , Hansen , M B , Hartung , A-M , Baumbach , J & Andresen , B S 2020 , ' DeepCLIP : predicting the effect of mutations on protein-RNA binding with deep learning ' , Nucleic Acids Research , vol. 48 , no. 13 , pp. 7099-7118 . https://doi.org/10.1093/nar/gkaa530

وصف الملف: application/pdf

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/30f97713-7cab-4169-9b1a-22fc320291de
https://doi.org/10.1093/nar/gkaa530
https://findresearcher.sdu.dk/ws/files/170913519/gkaa530.pdf

المؤلفون: Andresen, Brage Storstein, Doktor, Thomas Koed, Holm, Lise Lolle, Petersen, Ulrika Simone Spangsberg, Bruun, Gitte Hoffmann

المصدر: Andresen , B S , Doktor , T K , Holm , L L , Petersen , U S S & Bruun , G H Aug. 03 2023 , Allele specific splice switching oligonucleotides targeting pseudoexons , Patent No. WO2023144263 (A3) .

Relation: https://portal.findresearcher.sdu.dk/da/publications/36976d5b-c39e-4f68-be4a-f38f41cd75df

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/36976d5b-c39e-4f68-be4a-f38f41cd75df

المؤلفون: 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

المصدر: Nucleic Acids Research; 7/27/2020, Vol. 48 Issue 13, p7099-7118, 20p

المؤلفون: Holm, Lise Lolle

المصدر: Holm , L L 2020 , ' Global identification and characterization of in vivo binding sites for the major splicing regulator HNRNP A/B in human disease genes ' .

Relation: https://portal.findresearcher.sdu.dk/da/publications/f46e2598-567b-48a6-be12-489725ebc9f0

الاتاحة: https://portal.findresearcher.sdu.dk/da/publications/f46e2598-567b-48a6-be12-489725ebc9f0