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

2006 ◽  
Vol 35 (2) ◽  
pp. 371-389 ◽  
Author(s):  
N. N. Singh ◽  
R. N. Singh ◽  
E. J. Androphy
Keyword(s):  
Alternative Splicing ◽  
Spinal Muscular Atrophy ◽  
Rna Structure ◽  
Muscular Atrophy

scholarly journals Intrinsic Regulatory Role of RNA Structural Arrangement in Alternative Splicing Control

2020 ◽  
Vol 21 (14) ◽  
pp. 5161 ◽  
Author(s):  
Katarzyna Taylor ◽  
Krzysztof Sobczak
Keyword(s):  
Alternative Splicing ◽  
Rna Structure ◽  
The Other ◽  
Splicing Regulation ◽  
Rna Structures ◽  
Structural Arrangement ◽  
Biological Functionality ◽  
Cis And Trans ◽  
Structural Aspects

Alternative splicing is a highly sophisticated process, playing a significant role in posttranscriptional gene expression and underlying the diversity and complexity of organisms. Its regulation is multilayered, including an intrinsic role of RNA structural arrangement which undergoes time- and tissue-specific alterations. In this review, we describe the principles of RNA structural arrangement and briefly decipher its cis- and trans-acting cellular modulators which serve as crucial determinants of biological functionality of the RNA structure. Subsequently, we engage in a discussion about the RNA structure-mediated mechanisms of alternative splicing regulation. On one hand, the impairment of formation of optimal RNA structures may have critical consequences for the splicing outcome and further contribute to understanding the pathomechanism of severe disorders. On the other hand, the structural aspects of RNA became significant features taken into consideration in the endeavor of finding potential therapeutic treatments. Both aspects have been addressed by us emphasizing the importance of ongoing studies in both fields.

scholarly journals Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes

2018 ◽  
Vol 9 (1) ◽  
Author(s):  
Amparo Garcia-Lopez ◽  
Francesca Tessaro ◽  
Hendrik R. A. Jonker ◽  
Anna Wacker ◽  
Christian Richter ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rna Structure ◽  
Muscular Atrophy ◽  
Molecular Phenotypes

scholarly journals The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

2010 ◽  
Vol 29 (7) ◽  
pp. 1235-1247 ◽  
Author(s):  
Simona Pedrotti ◽  
Pamela Bielli ◽  
Maria Paola Paronetto ◽  
Fabiola Ciccosanti ◽  
Gian Maria Fimia ◽  
...  
Keyword(s):  
Alternative Splicing ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Splicing Silencer ◽  
Splicing Regulator

On the possible role of muscle in the pathogenesis of spinal muscular atrophy

2001 ◽  
Vol 15 (1) ◽  
pp. 31-40 ◽  
Author(s):  
Severine Guettier-Sigrist ◽  
Gilliane Coupin ◽  
Serge Braun ◽  
David Rogovitz ◽  
Isabelle Courdier ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals The Role of SMN2 Copy Number in Modulating the Spinal Muscular Atrophy Phenotype

2015 ◽  
Vol 23 (2) ◽  
pp. 62-66
Author(s):  
우승 ◽  
김수연 ◽  
최선아 ◽  
유일한 ◽  
황용승 ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Copy Number ◽  
Muscular Atrophy

Possible pathogenic role of muscle cell dysfunction in motor neuron death in spinal muscular atrophy

2002 ◽  
Vol 25 (5) ◽  
pp. 700-708 ◽  
Author(s):  
S�verine Guettier-Sigrist ◽  
B�n�dicte Hugel ◽  
Gilliane Coupin ◽  
Jean-Marie Freyssinet ◽  
Philippe Poindron ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscle Cell ◽  
Muscular Atrophy ◽  
Pathogenic Role ◽  
Neuron Death ◽  
Cell Dysfunction ◽  
Motor Neuron Death
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