MtDNA-maintenance defects: syndromes and genes
Author:
Funder
H2020 European Research Council
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0027-5/fulltext.html
Reference106 articles.
1. Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M (2003) Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 60:1354–1356
2. Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He LP, Craig K, Roberts M, Vyas A et al (2013) Late-onset respiratory failure due to tk2 mutations causing multiple mtDNA deletions. Neurology 81:2051–2053
3. Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissiere A, Campos Y, Rivera H, de la Aleja JG, Carroccia R et al (2008) OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes. Brain 131:338–351
4. Bamber L, Harding M, Monne M, Slotboom DJ, Kunji ERS (2007) The yeast mitochondrial ADP/ATP carrier functions as a monomer in mitochondrial membranes. Proc Natl Acad Sci U S A 104:10830–10834
5. Behin A, Jardel C, Claeys KG, Fagart J, Louha M, Romero NB, Laforet P, Eymard B, Lombes A (2012) Adult cases of mitochondrial DNA depletion due to TK2 defect—an expanding spectrum. Neurology 78:644–648
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