Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology-Reference-Cited by-同舟云学术

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Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology

Published:2017-05-29 Issue:17 Volume:26 Page:3235-3252
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Vest Katherine E.¹²,Phillips Brittany L.¹²,Banerjee Ayan²,Apponi Luciano H.¹,Dammer Eric B.³,Xu Weiting⁴,Zheng Dinghai⁴,Yu Julia²,Tian Bin⁴,Pavlath Grace K.¹,Corbett Anita H.²

Affiliation:

1. Department of Pharmacology, Emory University School of Medicine, Atlanta, GA, USA

2. Department of Biology, Emory University, Atlanta, GA, USA

3. Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, USA

4. Department of Microbiology, Biochemistry, and Molecular Genetics, Rutgers New Jersey Medical School, Newark, NJ, USA

Funder

National Institutes of Health

Muscular Dystrophy Association

Emory University School of Medicine

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/26/17/3235/24339787/ddx206.pdf

Reference77 articles.

1. Oculopharyngeal muscular dystrophy. A familial disease of late life characterized by dysphagia and progressive ptosis of the evelids;Victor;N. Engl. J. Med,1962

2. The relationship between physical symptoms and health-related quality of life in oculopharyngeal muscular dystrophy;Youssof;Muscle Nerve,2016

3. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy;Brais;Nat. Genet,1998

4. PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling;Richard;J. Neuromuscul. Dis,2015

5. An 18 alanine repeat in a severe form of oculopharyngeal muscular dystrophy;Jouan;Can. J. Neurol. Sci,2014

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