Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Rescue of spinal muscular atrophy mouse models with AAV9-Exon-specific U1 snRNA
Authors
Keywords
-
Journal
NUCLEIC ACIDS RESEARCH
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2019-05-17
DOI
10.1093/nar/gkz469
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy
- (2018) Meaghan Van Alstyne et al. GENES & DEVELOPMENT
- Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
- (2018) Ewout J N Groen et al. HUMAN MOLECULAR GENETICS
- Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model
- (2018) Irving Donadon et al. HUMAN MOLECULAR GENETICS
- Emerging Issues in AAV-Mediated In Vivo Gene Therapy
- (2018) Pasqualina Colella et al. Molecular Therapy-Methods & Clinical Development
- How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy
- (2017) N N Singh et al. GENE THERAPY
- Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model
- (2017) Lei Sheng et al. HUMAN MOLECULAR GENETICS
- Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
- (2017) Stephen Russell et al. LANCET
- AAV5–Factor VIII Gene Transfer in Severe Hemophilia A
- (2017) Savita Rangarajan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Activation of a cryptic 5′ splice site reverses the impact of pathogenic splice site mutations in the spinal muscular atrophy gene
- (2017) Natalia N. Singh et al. NUCLEIC ACIDS RESEARCH
- SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage
- (2017) Mohini Jangi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy
- (2017) Christian M. Simon et al. Cell Reports
- A role for the survival of motor neuron protein in mRNP assembly and transport
- (2016) Paul G Donlin-Asp et al. CURRENT OPINION IN NEUROBIOLOGY
- RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns
- (2016) Thomas Koed Doktor et al. NUCLEIC ACIDS RESEARCH
- Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy
- (2016) Suzan M. Hammond et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Therapeutic activity of modified U1 core spliceosomal particles
- (2016) Malgorzata Ewa Rogalska et al. Nature Communications
- Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
- (2016) Mojca Tajnik et al. PLoS Genetics
- SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials
- (2016) Phillip Zaworski et al. PLoS One
- Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA
- (2015) Andrea Dal Mas et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models
- (2015) Yimin Hua et al. GENES & DEVELOPMENT
- Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7
- (2015) John F. Staropoli et al. GENOMICS
- SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice
- (2015) Sara E. Gombash et al. HUMAN MOLECULAR GENETICS
- Exon-Specific U1s Correct SPINK5Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element
- (2015) Andrea Dal Mas et al. HUMAN MUTATION
- SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice
- (2015) James Palacino et al. Nature Chemical Biology
- Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches
- (2015) Monica Nizzardo et al. Scientific Reports
- A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains
- (2014) Manuel Irimia et al. CELL
- Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler–Najjar Syndrome
- (2014) Giulia Bortolussi et al. HUMAN GENE THERAPY
- Skeletal Muscle DNA Damage Precedes Spinal Motor Neuron DNA Damage in a Mouse Model of Spinal Muscular Atrophy (SMA)
- (2014) Saniya Fayzullina et al. PLoS One
- rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data
- (2014) Shihao Shen et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
- (2014) N. A. Naryshkin et al. SCIENCE
- SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease
- (2014) Darrick K. Li et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Pathological impact ofSMN2mis-splicing in adult SMA mice
- (2013) Kentaro Sahashi et al. EMBO Molecular Medicine
- A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice
- (2013) Haiyan Zhou et al. HUMAN GENE THERAPY
- An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
- (2012) Eugenio Fernandez Alanis et al. HUMAN MOLECULAR GENETICS
- Purification of the Human SMN–GEMIN2 Complex and Assessment of Its Stimulation of RAD51-Mediated DNA Recombination Reactions
- (2011) Motoki Takaku et al. BIOCHEMISTRY
- Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
- (2011) Yimin Hua et al. NATURE
- Utility of Survival Motor Neuron ELISA for Spinal Muscular Atrophy Clinical and Preclinical Analyses
- (2011) Dione T. Kobayashi et al. PLoS One
- Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model
- (2010) Y. Hua et al. GENES & DEVELOPMENT
- Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
- (2010) Kevin D Foust et al. NATURE BIOTECHNOLOGY
- GEMIN2 promotes accumulation of RAD51 at double-strand breaks in homologous recombination
- (2010) Yoshimasa Takizawa et al. NUCLEIC ACIDS RESEARCH
- Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy
- (2009) Dirk Bäumer et al. PLoS Genetics
- Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
- (2008) Leonie A. Menke et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
- (2008) Zhenxi Zhang et al. CELL
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started