Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo-Reference-Cited by-同舟云学术

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Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo

Published:2023-06-15 Issue:12 Volume:30 Page:812-825
ISSN:0969-7128
Container-title:Gene Therapy
language:en
Short-container-title:Gene Ther

Author:

Nafchi Neda A. M.^ORCID,Chilcott Ellie M.,Brown Sharon^ORCID,Fuller Heidi R.,Bowerman Melissa^ORCID,Yáñez-Muñoz Rafael J.^ORCID

Funder

Spinal Muscular Atrophy Trust

SMA UK

SMA Trust

Royal Holloway University of London

Great Ormond Street Hospital Charity

Muscular Dystrophy UK

Action Medical Research

Academy of Medical Sciences

SMA UK (reference: UK SMA Research Consortium) SMA Angels Charity

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Molecular Medicine

Link

https://www.nature.com/articles/s41434-023-00406-0.pdf

Reference67 articles.

1. Lefebvre S, Burgen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterisation of a spinal muscular atrophy-determining gene. Cell. 1995;80:155–65.

2. Lorson CL, Hahnen E, Androphy EJ, Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc Natl Acad Sci USA. 1999;96:6307–11.

3. Monani UR, Lorson CL, Parsons DW, Prior TW, Androphy EJ, Burghes AHM, et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Human Mol Genet. 1999;8:1177–83.

4. Butchbach MER. Copy number variations in the survival motor neuron genes: Implications for spinal muscular atrophy and other neurodegenerative diseases. Front Mol Biosci. 2016;3:7.

5. Harada Y, Sutomo R, Sadewa A, Akutsu T, Takeshima Y, Wada H, et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol. 2002;249:1211–9.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Gene therapy for spinal muscular atrophy: perspectives on the possibility of optimizing SMN1 delivery to correct all neurological and systemic perturbations;Neural Regeneration Research;2024-07-29

2. AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn 2B/− spinal muscular atrophy mice;Human Molecular Genetics;2023-07-27

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