#pseudoexon
#RNA_Horizons25
Next talk on Pseudoexon activation as a therapeutic approach
Brage Storstein Andresen from Denmark
October 29, 2025 at 10:56 AM Everybody can reply
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Enjoying #OTS2025 meeting in Budapest. Meeting old friends @varechavala.bsky.social @jandritu.bsky.social and other www.effect-dn.eu members
Our group shows results of using SSOs versus CRISPR to correct pseudoexon inclusion in neurometabolic diseases👇
October 19, 2025 at 11:55 AM Everybody can reply
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Pseudoexon inclusion can lead to NMD, protein degradation or altered protein function.
pseudoexons are sometimes naturally included.
Usually reoressed by RBPs that inhibit splicing.
Their company Inverna look for targets to activate as therapy e.g. Parkinson's.
October 29, 2025 at 11:04 AM Everybody can reply
Cases make for thoughtfulness, i see attempting genuine efficacy in small pseudoexon pop as opposed ongoing barriers evident so far with each approved hotspot patch, seems to be advice of Matsuo in his history of exon skipping paper Feb 3. Can Sensei you review it ?
February 8, 2025 at 10:16 PM Everybody can reply
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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy https://www.medrxiv.org/content/10.1101/2024.03.29.24304673v1
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy https://www.medrxiv.org/content/10.1101/2024.03.29.24304673v1
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging
www.medrxiv.org
March 30, 2024 at 2:26 AM Everybody can reply