Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model-Reference-Cited by-同舟云学术

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model

Published:2018-04-25 Issue:14 Volume:27 Page:2466-2476
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Donadon Irving¹,Pinotti Mirko²,Rajkowska Katarzyna¹,Pianigiani Giulia¹,Barbon Elena³,Morini Elisabetta⁴,Motaln Helena⁵,Rogelj Boris⁵⁶⁷,Mingozzi Federico³⁸,Slaugenhaupt Susan A⁴,Pagani Franco¹

Affiliation:

1. Human Molecular Genetics Laboratory, International Centre for Genetic Engineering and Biotechnology, Trieste, Italy

2. Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara, Italy

3. Genethon and INSERM U951, Evry, France

4. Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA, USA

5. Department of Biotechnology, Jožef Stefan Institute, Ljubljana, Slovenia

6. Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia

7. Biomedical Research Institute BRIS, Ljubljana, Slovenia

8. University Pierre and Marie Curie and INSERM U974, Paris, France

Funder

Telethon Foundation

Association Francais contre les Myopathies

Muscular Dystrophy Association

National Institute of Health

ICGEB institutional funds

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/27/14/2466/25098861/ddy151.pdf

Reference59 articles.

1. Central autonomic dysfunction with defective lacrimation; report of five cases;Riley;Pediatrics,1949

2. Familial dysautonomia: a review of the current pharmacological treatments;Axelrod;Expert. Opin. Pharmacother,2005

3. A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation;Jackson;Development,2014

4. Familial dysautonomia: history, genotype, phenotype and translational research;Norcliffe-Kaufmann;Prog. Neurobiol,2017

5. Familial dysautonomia: mechanisms and models;Dietrich;Genet. Mol. Biol,2016

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