Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia
Tài liệu tham khảo
Horvath, 2006, Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene, Brain, 129, 1674, 10.1093/brain/awl088
Longley, 2006, Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia, Am J Hum Genet, 78, 1026, 10.1086/504303
Kaukonen, 2000, Role of adenine nucleotide translocator 1 in mtDNA maintenance, Science, 289, 782, 10.1126/science.289.5480.782
Spelbrink, 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, 10.1038/90058
Nishino, 1999, Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder, Science, 283, 689, 10.1126/science.283.5402.689
Hudson, 2008, Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance, Brain, 131, 329, 10.1093/brain/awm272
Amati-Bonneau, 2008, OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes, Brain, 131, 338, 10.1093/brain/awm298
Tyynismaa, 2009, A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions, Am J Hum Genet, 85, 290, 10.1016/j.ajhg.2009.07.009
Nikali, 2005, Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky, Hum Mol Genet, 14, 2981, 10.1093/hmg/ddi328
Hakonen, 2007, Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion, Brain, 130, 3032, 10.1093/brain/awm242
Sarzi, 2007, Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion, Ann Neurol, 62, 579, 10.1002/ana.21207
Lewis, 2002, Clinical and molecular features of adPEO due to mutations in the Twinkle gene, J Neurol Sci, 201, 39, 10.1016/S0022-510X(02)00190-9
Virgilio, 2008, Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia, J Neurol, 255, 1384, 10.1007/s00415-008-0926-3
Sciacco, 2001, Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation, J Neurol, 248, 778, 10.1007/s004150170094
Moraes, 2003, Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations, J Mol Diagn, 5, 197, 10.1016/S1525-1578(10)60474-6
Wanrooij, 2010, The human mitochondrial replication fork in health and disease, Biochim Biophys Acta, 1797, 1378, 10.1016/j.bbabio.2010.04.015
Rötig, 2009, Genetic causes of mitochondrial DNA depletion in humans, Biochim Biophys Acta, 1792, 1103, 10.1016/j.bbadis.2009.06.009
Fratter, 2010, The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO, Neurology, 74, 1619, 10.1212/WNL.0b013e3181df099f
Martin-Negrier, 2010, TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review, Eur J Neurol
Matsushima, 2008, Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase, J Biol Chem, 283, 23964, 10.1074/jbc.M803674200