Identification of SRSF10 as a regulator of SMN2 ISS‐N1-Reference-Cited by-同舟云学术

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Identification of SRSF10 as a regulator of SMN2 ISS‐N1

Published:2020-12-16 Issue:3 Volume:42 Page:246-260
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Frederiksen Sabrina B.¹,Holm Lise L.¹,Larsen Martin R.¹,Doktor Thomas K.¹,Andersen Henriette S.¹,Hastings Michelle L.²,Hua Yimin³,Krainer Adrian R.³,Andresen Brage S.¹^ORCID

Affiliation:

1. Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences University of Southern Denmark Odense M Denmark

2. Department of Cell Biology and Anatomy, Center for Genetic Diseases, Chicago Medical School and School of Graduate and Postdoctoral Studies Rosalind Franklin University of Medicine and Science North Chicago Illinois USA

3. Cold Spring Harbor Laboratory Cold Spring Harbor New York USA

Funder

Muskelsvindfonden

Lundbeckfonden

Sundhed og Sygdom, Det Frie Forskningsråd

Natur og Univers, Det Frie Forskningsråd

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24149

Reference54 articles.

1. Tandem hnRNP A1 RNA recognition motifs act in concert to repress the splicing of survival motor neuron exon 7

2. Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

3. RNA binding specificity of hnRNP A1: significance of hnRNP A1 high-affinity binding sites in pre-mRNA splicing.

4. Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2

5. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1

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1. U1 snRNA interactions with deep intronic sequences regulate splicing of multiple exons of spinal muscular atrophy genes;Frontiers in Neuroscience;2024-07-12

2. Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;Molecular Therapy - Nucleic Acids;2024-03

3. All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing;Nucleic Acids Research;2024-02-07

4. Targeting serine- and arginine-rich splicing factors to rectify aberrant alternative splicing;Drug Discovery Today;2023-09

5. RegulatingPCCAgene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia;2023-07-05

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