Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model-Reference-Cited by-同舟云学术

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Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model

Published:2012-07-03 Issue:19 Volume:21 Page:4301-4313
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Bebee Thomas W.,Dominguez Catherine E.,Samadzadeh-Tarighat Somayeh,Akehurst Kristi L.,Chandler Dawn S.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/21/19/4301/17256873/dds263.pdf

Reference53 articles.

1. Identification and characterization of a spinal muscular atrophy-determining gene;Lefebvre;Cell,1995

2. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number;McAndrew;Am. J. Hum. Gen.,1997

3. Correlation between severity and SMN protein level in spinal muscular atrophy;Lefebvre;Nat. Genet.,1997

4. The survival motor neuron protein in spinal muscular atrophy;Coovert;Hum. Mol. Genet.,1997

5. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy;Lorson;Proc. Natl Acad. Sci. USA,1999

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1. hnRNP A1 dysfunction alters RNA splicing and drives neurodegeneration in multiple sclerosis (MS);Nature Communications;2024-01-08

2. Factors modifying the course of spinal muscular atrophy 5q;Neuromuscular Diseases;2024-01-05

3. Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts;Protein Science;2023-03-22

4. Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA;Human Genetics;2022-01-28

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