Publications by authors named "Isabel Aznarez"

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Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells.
Aditya Venkatesh, Taylor McKenty, Syed Ali, Donna Sonntag, Shobha Ravipaty, Isabel Aznarez

Nucleic Acid Ther· October 2024

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Clinical Applications of Single-Stranded Oligonucleotides: Current Landscape of Approved and In-Development Therapeutics.
Juergen Scharner, Isabel Aznarez

Mol Ther· February 2021

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Antisense oligonucleotides increase expression and reduce seizures and SUDEP incidence in a mouse model of Dravet syndrome.
Zhou Han, Chunling Chen, Anne Christiansen, Sophina Ji, Qian Lin, Isabel Aznarez

Sci Transl Med· August 2020

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Antisense oligonucleotide modulation of non-productive alternative splicing upregulates gene expression.
Kian Huat Lim, Zhou Han, Hyun Yong Jeon, Jacob Kach, Enxuan Jing, Isabel Aznarez

Nat Commun· July 2020

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Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.
Isabel Aznarez, Tomoki T Nomakuchi, Jaclyn Tetenbaum-Novatt, Mohammad Alinoor Rahman, Oliver Fregoso

Cell Rep· May 2018

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Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay.
Tomoki T Nomakuchi, Frank Rigo, Isabel Aznarez, Adrian R Krainer

Nat Biotechnol· February 2016

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A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.
Isabel Aznarez, Yoseph Barash, Ofer Shai, David He, Julian Zielenski

Genome Res· August 2008

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Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
Isabel Aznarez, Julian Zielenski, Johanna M Rommens, Benjamin J Blencowe, Lap-Chee Tsui

J Med Genet· May 2007

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Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Isabel Aznarez, Elayne M Chan, Julian Zielenski, Benjamin J Blencowe, Lap-Chee Tsui

Hum Mol Genet· August 2003

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CFTR mutation detection by multiplex heteroduplex (mHET) analysis on MDE gel.
Julian Zielenski, Isabel Aznarez, Tuncer Onay, John Tzounzouris, Danuta Markiewicz

Methods Mol Med· September 2002

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Cystic fibrosis in Uruguay.
Gerardo Luzardo, Isabel Aznarez, Beatriz Crispino, Adriana Mimbacas, Liria Martínez

Genet Mol Res· March 2002

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