Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase-Reference-Cited by-同舟云学术

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

Published:2018-11-29 Issue:7 Volume:28 Page:1090-1099
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Peter Bradley¹,Farge Geraldine²,Pardo-Hernandez Carlos¹,Tångefjord Stefan³,Falkenberg Maria¹

Affiliation:

1. Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Sweden

2. Centre Nacionale de la Recherche Scientifique/Institut National de Physique Nucléaire et des Particules, Laboratoire de Physique de Clermont, Université Clermont Auvergne, BP 10448, Clermont-Ferrand, France

3. Discovery Sciences, IMED Biotech Unit, AstraZeneca, Gothenburg, Sweden

Funder

National Microscopy Infrastructure

Centre for Cellular Imaging

Association Française Contre les Myopathies Téléthon

Knut and Alice Wallenbergs Foundation

Inga Britt and Arne Lundberg Foundation

European Research Council

Swedish Cancer Foundation

Swedish Research Council

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/28/7/1090/28226275/ddy415.pdf

Reference50 articles.

1. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region;Zeviani;Nature,1989

2. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease;Suomalainen;Neurology,1997

3. Mitochondria and the heart;Hirano;Curr. Opin. Cardiol.,2001

4. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria;Spelbrink;Nat. Genet.,2001

5. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions;Van Goethem;Nat. Genet.,2001

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