Repository logo
 
Publication

Exploring an antisense oligonucleotide exon-skipping therapeutic strategy for Mucolipidosis II

2023-10Conference object Restricted access
Simple item page
dc.contributor.authorMatos, Liliana
dc.contributor.authorGonçalves, Mariana
dc.contributor.authorSantos, Juliana Inês
dc.contributor.authorCoutinho, Maria Francisca
dc.contributor.authorPrata, Maria João
dc.contributor.authorOmidi, Maryam
dc.contributor.authorPohl, Sandra
dc.contributor.authorAlves, Sandra
dc.date.accessioned2024-02-27T17:13:36Z
dc.date.available2024-02-27T17:13:36Z
dc.date.issued2023-10
dc.description.abstractIntroduction: Mucolipidosis II (ML II) is a Lysosomal Storage Disorder caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose-6-Phosphate marker addition to lysosomal enzymes. Of all ML II mutations, the c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a personalized therapy. Here, we explored an innovative therapeutic strategy based on the use of antisense oligonucleotides (ASOs) for ML II. Previously, on ML II patients’ fibroblasts, ASOs were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the production of an in-frame mRNA. Now, our aim is to analyze if these results are translated to the enzymatic and cellular phenotype level.pt_PT
dc.description.versionN/Apt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/9150
dc.language.isoengpt_PT
dc.peerreviewednopt_PT
dc.subjectMucolipidosis IIpt_PT
dc.subjectLysosomal Storage Disorderpt_PT
dc.subjectGenética Humanapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleExploring an antisense oligonucleotide exon-skipping therapeutic strategy for Mucolipidosis IIpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceBarcelona, Espanhapt_PT
oaire.citation.title19th Annual Meeting of the Oligonucleotide Therapeutics Society, 22-25 October 2023pt_PT
rcaap.rightsrestrictedAccesspt_PT
rcaap.typeconferenceObjectpt_PT

Files

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
Abstract DARTER final meeting 2023_LM.pdf
Size:
526.85 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Posters/abstracts em congressos internacionais