Cargando…

High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts

Spinal muscular atrophy (SMA) is caused by survival motor neuron 1 SMN1 deletion. The survival motor neuron 2 (SMN2) encodes the same protein as SMN1 does, but it has a splicing defect of exon 7. Some antisense oligonucleotides (ASOs) have been proven to correct this defect. One of these, nusinersen...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wijaya, Yogik Onky Silvana, Niba, Emma Tabe Eko, Nishio, Hisahide, Okamoto, Kentaro, Awano, Hiroyuki, Saito, Toshio, Takeshima, Yasuhiro, Shinohara, Masakazu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9027857/ https://www.ncbi.nlm.nih.gov/pubmed/35456491 http://dx.doi.org/10.3390/genes13040685

Ejemplares similares

Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
por: Niba, Emma Tabe Eko, et al.
Publicado: (2022)

Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
por: Wijaya, Yogik Onky Silvana, et al.
Publicado: (2021)

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis
por: Niba, Emma Tabe Eko, et al.
Publicado: (2021)

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots
por: Wijaya, Yogik Onky Silvana, et al.
Publicado: (2020)

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
por: Nishio, Hisahide, et al.
Publicado: (2023)

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
por: Kimizu, Tomokazu, et al.
Publicado: (2021)

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study
por: Shinohara, Masakazu, et al.
Publicado: (2019)

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
por: Noguchi, Yoriko, et al.
Publicado: (2022)

Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110
por: Noguchi, Yoriko, et al.
Publicado: (2023)

Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells
por: Niba, Emma Tabe Eko, et al.
Publicado: (2021)

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

DMD transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification
por: Niba, Emma Tabe Eko, et al.
Publicado: (2017)

A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in SMN2
por: Park, Jin-Mo, et al.
Publicado: (2019)

Improved Antisense Oligonucleotide Design to Suppress Aberrant SMN2 Gene Transcript Processing: Towards a Treatment for Spinal Muscular Atrophy
por: Mitrpant, Chalermchai, et al.
Publicado: (2013)

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice
por: Strathmann, Eike A., et al.
Publicado: (2018)

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
por: Valsecchi, Valeria, et al.
Publicado: (2023)

Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript
por: Flynn, Loren L., et al.
Publicado: (2018)

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

Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment
por: Robin, Valérie, et al.
Publicado: (2017)

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

Development of 2′-O-Methyl and LNA Antisense Oligonucleotides for SMN2 Splicing Correction in SMA Cells
por: Maretina, Marianna, et al.
Publicado: (2023)

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy
por: Zhou, Haiyan, et al.
Publicado: (2020)

Therapeutic strategies for spinal muscular atrophy: SMN and beyond
por: Bowerman, Melissa, et al.
Publicado: (2017)

SMN post-translational modifications in spinal muscular atrophy
por: Riboldi, Giulietta M., et al.
Publicado: (2023)

Limited Phenotypic Effects of Selectively Augmenting the SMN Protein in the Neurons of a Mouse Model of Severe Spinal Muscular Atrophy
por: Lee, Andrew J-H., et al.
Publicado: (2012)

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)

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)

Detection of Dystrophin Dp71 in Human Skeletal Muscle Using an Automated Capillary Western Assay System
por: Kawaguchi, Tatsuya, et al.
Publicado: (2018)

An Antisense Oligonucleotide against a Splicing Enhancer Sequence within Exon 1 of the MSTN Gene Inhibits Pre-mRNA Maturation to Act as a Novel Myostatin Inhibitor
por: Maeta, Kazuhiro, et al.
Publicado: (2022)

Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene
por: Fukushima, Sachiyo, et al.
Publicado: (2020)

A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy
por: Keil, Jeffrey M, et al.
Publicado: (2014)

Therapy Development for Spinal Muscular Atrophy in SMN Independent Targets
por: Tsai, Li-Kai
Publicado: (2012)

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)

Histopathological Defects in Intestine in Severe Spinal Muscular Atrophy Mice Are Improved by Systemic Antisense Oligonucleotide Treatment
por: Sintusek, Palittiya, et al.
Publicado: (2016)

A Semi‐Mechanistic Population Pharmacokinetic Model of Nusinersen: An Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy
por: Biliouris, Konstantinos, et al.
Publicado: (2018)

Cerebrospinal Fluid Parameters in Antisense Oligonucleotide-Treated Adult 5q-Spinal Muscular Atrophy Patients
por: Müschen, Lars Hendrik, et al.
Publicado: (2021)

Restoration of Full-Length SMN Promoted by Adenoviral Vectors Expressing RNA Antisense Oligonucleotides Embedded in U7 snRNAs
por: Geib, Till, et al.
Publicado: (2009)

SMN1 dosage analysis in spinal muscular atrophy from India
por: Kesari, Akanchha, et al.
Publicado: (2005)

Modeling spinal muscular atrophy in Drosophila links Smn to FGF signaling
por: Sen, Anindya, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_4097h3ee2m95df9a5tonukup48