Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes

por Singh, Natalia N., Singh, Ravindra N., Androphy, Elliot J.
Publicado 2007

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy

por Singh, Ravindra N, Ottesen, Eric W, Singh, Natalia N
Publicado 2020

A Multi-Exon-Skipping Detection Assay Reveals Surprising Diversity of Splice Isoforms of Spinal Muscular Atrophy Genes

por Singh, Natalia N., Seo, Joonbae, Rahn, Sarah J., Singh, Ravindra N.
Publicado 2012

A Multilayered Control of the Human Survival Motor Neuron Gene Expression by Alu Elements

por Ottesen, Eric W., Seo, Joonbae, Singh, Natalia N., Singh, Ravindra N.
Publicado 2017

High-affinity RNA targets of the Survival Motor Neuron protein reveal diverse preferences for sequence and structural motifs

por Ottesen, Eric W, Singh, Natalia N, Luo, Diou, Singh, Ravindra N
Publicado 2018

Human Survival Motor Neuron genes generate a vast repertoire of circular RNAs

por Ottesen, Eric W, Luo, Diou, Seo, Joonbae, Singh, Natalia N, Singh, Ravindra N
Publicado 2019

A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein

por Seo, Joonbae, Singh, Natalia N., Ottesen, Eric W., Lee, Brian M., Singh, Ravindra N.
Publicado 2016

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

por Seo, Joonbae, Singh, Natalia N., Ottesen, Eric W., Sivanesan, Senthilkumar, Shishimorova, Maria, Singh, Ravindra N.
Publicado 2016

Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene

por Singh, Natalia N., O'Leary, Collin A., Eich, Taylor, Moss, Walter N., Singh, Ravindra N.
Publicado 2022

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

por Singh, Natalia N., Lawler, Mariah N., Ottesen, Eric W., Upreti, Daya, Kaczynski, Jennifer R., Singh, Ravindra N.
Publicado 2013

Severe impairment of male reproductive organ development in a low SMN expressing mouse model of spinal muscular atrophy

por Ottesen, Eric W., Howell, Matthew D., Singh, Natalia N., Seo, Joonbae, Whitley, Elizabeth M., Singh, Ravindra N.
Publicado 2016

Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene

por Singh, Natalia N., Del Rio-Malewski, José Bruno, Luo, Diou, Ottesen, Eric W., Howell, Matthew D., Singh, Ravindra N.
Publicado 2017

Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy

por Ottesen, Eric W, Singh, Natalia N, Luo, Diou, Kaas, Bailey, Gillette, Benjamin J, Seo, Joonbae, Jorgensen, Hannah J, Singh, Ravindra N
Publicado 2023

TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy

por Howell, Matthew D., Ottesen, Eric W., Singh, Natalia N., Anderson, Rachel L., Seo, Joonbae, Sivanesan, Senthilkumar, Whitley, Elizabeth M., Singh, Ravindra N.
Publicado 2017