Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy-Reference-Cited by-同舟云学术

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

Published:2018-05-22 Issue:16 Volume:27 Page:2851-2862
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Groen Ewout J N¹²,Perenthaler Elena¹²,Courtney Natalie L¹²,Jordan Crispin Y¹,Shorrock Hannah K¹²,van der Hoorn Dinja¹²,Huang Yu-Ting¹²,Murray Lyndsay M¹²,Viero Gabriella³,Gillingwater Thomas H¹²^ORCID

Affiliation:

1. Centre for Discovery Brain Sciences, Edinburgh Medical School: Biomedical Sciences

2. Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh EH8 9XD, UK

3. Institute of Biophysics, CNR Unit at Trento, 38123 Povo, Trento, Italy

Funder

Wellcome Trust

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/27/16/2851/25428213/ddy195.pdf

Reference50 articles.

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

4. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2;Monani;Hum. Mol. Genet,1999

5. Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron;Han;J. Biol. Chem,2012

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