A novel variation in the Twinkle linker region causing late-onset dementia-Reference-Cited by-同舟云学术

A novel variation in the Twinkle linker region causing late-onset dementia

Published:2009-06-10 Issue:1 Volume:11 Page:21-25
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Echaniz-Laguna Andoni,Chanson Jean-Baptiste,Wilhelm Jean-Marie,Sellal François,Mayençon Martine,Mohr Michel,Tranchant Christine,de Camaret Bénédicte Mousson

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-009-0202-4.pdf

Reference15 articles.

1. Spelbrink JN, Li FY, Tiranti V et al (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet 28:223–231

2. Virgilio R, Ronchi D, Hadjigeorgiou GM et al (2008) Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol 255:1384–1391

3. Jeppesen TD, Schwartz M, Colding-Jorgensen E, Krag T, Hauerslev S, Vissing J (2008) Phenotype and clinical course in a family with a new de novo Twinkle gene mutation. Neuromuscul Disord 18:306–309

4. Baloh RH, Salavaggione E, Milbrandt J, Pestronk A (2007) Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase Twinkle. Arch Neurol 64:998–1000

5. de Camaret Mousson B, Taanman J-W, Padet S et al (2007) Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion. Biochem J 402:377–385

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