Search Results - "Singh, Natalia N."

The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy by Singh, Ravindra N, Ottesen, Eric W, Singh, Natalia N

“…Spinal muscular atrophy (SMA) is one of the leading causes of infant mortality. SMA is mostly caused by low levels of Survival Motor Neuron (SMN) protein due…”
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U1 snRNA interactions with deep intronic sequences regulate splicing of multiple exons of spinal muscular atrophy genes by Ottesen, Eric W, Singh, Natalia N, Seo, Joonbae, Singh, Ravindra N

“…The U1 small nuclear RNA (snRNA) forms ribonucleoprotein particles (RNPs) such as U1 snRNP and U1-TAF15 snRNP. U1 snRNP is one of the most studied RNPs due to…”
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A novel human-specific splice isoform alters the critical C-terminus of Survival Motor Neuron protein by Seo, Joonbae, Singh, Natalia N., Ottesen, Eric W., Lee, Brian M., Singh, Ravindra N.

“…Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mutations or deletions of Survival Motor Neuron 1 ( SMN1 ) gene…”
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Activation of a cryptic 5' splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene by Singh, Natalia N, Del Rio-Malewski, José Bruno, Luo, Diou, Ottesen, Eric W, Howell, Matthew D, Singh, Ravindra N

“…Spinal muscular atrophy (SMA) is caused by deletions or mutations of the Survival Motor Neuron 1 (SMN1) gene coupled with predominant skipping of SMN2 exon 7…”
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Spinal muscular atrophy: An update on therapeutic progress by Seo, Joonbae, Howell, Matthew D., Singh, Natalia N., Singh, Ravindra N.

“…Humans have two nearly identical copies of survival motor neuron gene: SMN1 and SMN2. Deletion or mutation of SMN1 combined with the inability of SMN2 to…”
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Splicing of a Critical Exon of Human Survival Motor Neuron Is Regulated by a Unique Silencer Element Located in the Last Intron by Singh, Nirmal K., Singh, Natalia N., Androphy, Elliot J., Singh, Ravindra N.

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Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene by Seo, Joonbae, Singh, Natalia N, Ottesen, Eric W, Sivanesan, Senthilkumar, Shishimorova, Maria, Singh, Ravindra N

“…Humans carry two nearly identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 leads to spinal muscular atrophy (SMA), the most frequent…”
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A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes by Singh, Natalia N, Seo, Joonbae, Rahn, Sarah J, Singh, Ravindra N

“…Humans have two near identical copies of Survival Motor Neuron gene: SMN1 and SMN2. Loss of SMN1 coupled with the predominant skipping of SMN2 exon 7 causes…”
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TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy by Singh, Natalia N., Seo, Joonbae, Ottesen, Eric W., Shishimorova, Maria, Bhattacharya, Dhruva, Singh, Ravindra N.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy by Howell, Matthew D., Ottesen, Eric W., Singh, Natalia N., Anderson, Rachel L., Seo, Joonbae, Sivanesan, Senthilkumar, Whitley, Elizabeth M., Singh, Ravindra N.

“…Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 ( SMN1 ) gene. The nearly identical SMN2 cannot compensate for…”
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Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene by Singh, Natalia N., O'Leary, Collin A., Eich, Taylor, Moss, Walter N., Singh, Ravindra N.

“…Humans contain two nearly identical copies of Survival Motor Neuron genes, SMN1 and SMN2 . Deletion or mutation of SMN1 causes spinal muscular atrophy (SMA),…”
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A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy by Singh, Natalia N., Shishimorova, Maria, Cao, Lu Cheng, Gangwani, Laxman, Singh, Ravindra N.

“…Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. Most SMA cases are associated with the low levels of SMN owing to deletion of…”
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Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model by Singh, Natalia N., Singh, Ravindra N.

“…Humans have two nearly identical copies of the Survival Motor Neuron (SMN) gene: SMN1 and SMN2. The two SMN genes code for identical proteins; however, SMN2…”
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Diverse role of survival motor neuron protein by Singh, Ravindra N., Howell, Matthew D., Ottesen, Eric W., Singh, Natalia N.

“…The multifunctional Survival Motor Neuron (SMN) protein is required for the survival of all organisms of the animal kingdom. SMN impacts various aspects of RNA…”
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RNA in spinal muscular atrophy: therapeutic implications of targeting by Singh, Ravindra N, Seo, Joonbae, Singh, Natalia N

“…Spinal muscular atrophy (SMA) is caused by low levels of the Survival Motor Neuron (SMN) protein due to deletions of or mutations in the gene. Humans carry…”
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Human Survival Motor Neuron genes generate a vast repertoire of circular RNAs by Ottesen, Eric W, Luo, Diou, Seo, Joonbae, Singh, Natalia N, Singh, Ravindra N

“…Abstract Circular RNAs (circRNAs) perform diverse functions, including the regulation of transcription, translation, peptide synthesis, macromolecular…”
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Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes by Singh, Natalia N, Hoffman, Shaine, Reddi, Prabhakara P, Singh, Ravindra N

“…Spinal muscular atrophy (SMA) is one of the major genetic disorders associated with infant mortality. More than 90% of cases of SMA result from deletions of or…”
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How RNA structure dictates the usage of a critical exon of spinal muscular atrophy gene by Singh, Natalia N., Singh, Ravindra N.

“…Role of RNA structure in pre-mRNA splicing has been implicated for several critical exons associated with genetic disorders. However, much of the structural…”
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A novel role of U1 snRNP: Splice site selection from a distance by Singh, Ravindra N., Singh, Natalia N.

“…Removal of introns by pre-mRNA splicing is fundamental to gene function in eukaryotes. However, understanding the mechanism by which exon-intron boundaries are…”
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A super minigene with a short promoter and truncated introns recapitulates essential features of transcription and splicing regulation of the SMN1 and SMN2 genes by Ottesen, Eric W, Seo, Joonbae, Luo, Diou, Singh, Natalia N, Singh, Ravindra N

“…Here we report a Survival Motor Neuron 2 (SMN2) super minigene, SMN2Sup, encompassing its own promoter, all exons, their flanking intronic sequences and the…”
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