Cargando…

NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression

Spinal muscular atrophy (SMA) is a rare hereditary neuromuscular disease with a high lethality rate in infants. Variants in the homologous genes survival of motor neuron (SMN)1 and SMN2 have been reported to be SMA pathogenic factors. Previous studies showed that a high inclusion rate of SMN2 exon 7...

Descripción completa

Detalles Bibliográficos
Autores principales:	Du, Li-Li, Sun, Jun-Jie, Chen, Zhi-Heng, Shao, Yi-Xiang, Wu, Liu-Cheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120702/ https://www.ncbi.nlm.nih.gov/pubmed/35535907 http://dx.doi.org/10.4103/1673-5374.339005

Ejemplares similares

Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2
por: Yoshimoto, Satomi, et al.
Publicado: (2016)

Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2
por: Doktor, Thomas Koed, et al.
Publicado: (2014)

Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon
por: Hua, Yimin, et al.
Publicado: (2007)

Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7
por: Yu-jin, Qu, et al.
Publicado: (2012)

The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
por: Davidson, Joanne E, et al.
Publicado: (2023)

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent
por: Vijzelaar, Raymon, et al.
Publicado: (2019)

Targeted SMN Exon Skipping: A Useful Control to Assess In Vitro and In Vivo Splice-Switching Studies
por: Flynn, Loren L., et al.
Publicado: (2021)

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration
por: Arnold, W. David, et al.
Publicado: (2016)

A Targeted Oligonucleotide Enhancer of SMN2 Exon 7 Splicing Forms Competing Quadruplex and Protein Complexes in Functional Conditions
por: Smith, Lindsay D., et al.
Publicado: (2014)

Lysine-Less Variants of Spinal Muscular Atrophy SMN and SMNΔ7 Proteins Are Degraded by the Proteasome Pathway
por: Sánchez-Lanzas, Raúl, et al.
Publicado: (2017)

Deletion of Murine SMN Exon 7 Directed to Skeletal Muscle Leads to Severe Muscular Dystrophy
por: Cifuentes-Diaz, Carmen, et al.
Publicado: (2001)

A small molecule antagonist of SMN disrupts the interaction between SMN and RNAP II
por: Liu, Yanli, et al.
Publicado: (2022)

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
por: Šoltić, Darija, et al.
Publicado: (2020)

Smn-Deficiency Increases the Intrinsic Excitability of Motoneurons
por: Arumugam, Saravanan, et al.
Publicado: (2017)

PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice
por: Kordala, Anna J, et al.
Publicado: (2023)

Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology
por: Wang, Yiran, et al.
Publicado: (2019)

CORRIGENDUM to Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy
Publicado: (2020)

The Need for SMN-Independent Treatments of Spinal Muscular Atrophy (SMA) to Complement SMN-Enhancing Drugs
por: Hensel, Niko, et al.
Publicado: (2020)

Pathological impact of SMN2 mis-splicing in adult SMA mice
por: Sahashi, Kentaro, et al.
Publicado: (2013)

Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells
por: Custer, Sara K., et al.
Publicado: (2016)

SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members
por: Binda, Olivier, et al.
Publicado: (2022)

The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method
por: Yalcintepe, Sinem, et al.
Publicado: (2023)

LNA/DNA mixmer-based antisense oligonucleotides correct alternative splicing of the SMN2 gene and restore SMN protein expression in type 1 SMA fibroblasts
por: Touznik, Aleksander, et al.
Publicado: (2017)

Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant
por: Antoine, Marie, et al.
Publicado: (2019)

High Expression Level of Tra2-β1 Is Responsible for Increased SMN2 Exon 7 Inclusion in the Testis of SMA Mice
por: Chen, Yu-Chia, et al.
Publicado: (2015)

Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures
por: Pletto, Daniela, et al.
Publicado: (2018)

Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
por: Fang, Ping, et al.
Publicado: (2015)

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons
por: Cho, Sunghee, et al.
Publicado: (2014)

Structure of SRSF1 RRM1 bound to RNA reveals an unexpected bimodal mode of interaction and explains its involvement in SMN1 exon7 splicing
por: Cléry, Antoine, et al.
Publicado: (2021)

SMN-deficient cells exhibit increased ribosomal DNA damage
por: Karyka, Evangelia, et al.
Publicado: (2022)

Possible implication of undescribed SMN1-SMN2 genotype in chronic EMG-pattern of SMA with transitory acute denervation
por: Vitello, Girolamo A., et al.
Publicado: (2020)

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers
por: Sivaramakrishnan, Manaswini, et al.
Publicado: (2017)

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
por: Rizzo, Federica, et al.
Publicado: (2019)

Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
Publicado: (2019)

Development of a Single Vector System that Enhances Trans-Splicing of SMN2 Transcripts
por: Coady, Tristan H., et al.
Publicado: (2008)

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy
por: Pagliarini, Vittoria, et al.
Publicado: (2015)

Interaction of 7SK with the Smn complex modulates snRNP production
por: Ji, Changhe, et al.
Publicado: (2021)

Sumoylation regulates the assembly and activity of the SMN complex
por: Riboldi, Giulietta M., et al.
Publicado: (2021)

Systematic characterization of short intronic splicing-regulatory elements in SMN2 pre-mRNA
por: Gao, Yuan, et al.
Publicado: (2022)

Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins
por: Huo, Qing, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_hiq0egbgbo6lepits2f4e0cabt