EDP Sciences logo
Subscriber Authentication Point
Search
Menu
Home All issues Volume 26 / No 10 (Octobre 2010) Med Sci (Paris), 26 10 (2010) 836-841 References
Free Access
Issue
Med Sci (Paris)
Volume 26, Number 10, Octobre 2010
Page(s) 836 - 841
Section M/S revues
DOI https://doi.org/10.1051/medsci/20102610836
Published online 15 October 2010
  1. Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000 ; 26 : 207-10. [Google Scholar]
  2. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynaminrelated GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000 ; 26 : 211-5. [Google Scholar]
  3. Zuchner S, Mersiyanova IV, Muglia M, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet 2004 ; 36 : 449-51. [Google Scholar]
  4. Waterham HR, Koster J, Van Roermund CW, et al. A lethal defect of mitochondrial and peroxisomal fission. N Eng J Med 2007 ; 356 : 1736-41. [Google Scholar]
  5. Baxter RV, Ben Othmane K, Rochelle JM, et al. Ganglioside-induced differentiation-associated protein1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 2002 ; 30 : 21-2. [Google Scholar]
  6. Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005 ; 42 : 358-65. [Google Scholar]
  7. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol 1959 ; 164 (suppl 54) : 1-147. [Google Scholar]
  8. Milea D, Sander B, Wegener M, et al. Axonal loss occurs early in dominant optic atrophy. Acta Ophthalmol 2010 ; 88 : 342-6. [Google Scholar]
  9. Yu-Wai-Man P, Griffiths PG, Gorman GS, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010 ; 133 : 771-86. [Google Scholar]
  10. Lenaers G, Reynier OPE1 Achouri G, et al. OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol 2009 ; 41 : 1866-74. [Google Scholar]
  11. Ferré M, Amati-Bonneau P, Tourmen Y, et al. eOPA1: an online database for OPA1 mutations. Hum Mutat 2005 ; 25 : 423-8. [Google Scholar]
  12. Sauvanet C, Arnauné-Pelloquin L, David C, et al. Mitochondrial morphology and dynamics: actors, mecanisms and functions. Med Sci (Paris) 2010 ; 26 : 823-9. [Google Scholar]
  13. Chevrollier A, Guillet V, Loiseau D, et al. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol 2008 ; 63 : 794-8. [Google Scholar]
  14. Zanna C, Ghelli A, Porcelli AM, et al. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 2008 ; 131 : 352-67. [Google Scholar]
  15. Amati-Bonneau P, Valentino ML, Reynier P, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Brain 2008 ; 131 : 338-51. [Google Scholar]
  16. Sarzi E, Rötig A. Instabilité du génome mitochondrial et pathologies associées. Med Sci (Paris) 2010 ; 26 : 171-6. [Google Scholar]
  17. Alavi MV, Bette S, Schimpf S, et al. A splice site mutation in the murine OPA1 gene features pathology of autosomal dominant optic atrophy. Brain 2007 ; 130 : 1029-42. [Google Scholar]
  18. Davies VJ, Hollins AJ, Piechota MJ, et al. OPA1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum Mol Genet 2007 ; 16 : 1307-18. [Google Scholar]
  19. Charcot JM, Marie P. Sur une forme particulière d’atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886 ; 6 : 97-138. [Google Scholar]
  20. Tooth H. The peroneal type of progressive muscular atrophy. London : HK Lewis, 1886. [Google Scholar]
  21. Züchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 2006 ; 59 : 276-81. [Google Scholar]
  22. Cartoni R, Martinou JC. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. Exp Neurol 2009 ; 218 : 268-73. [Google Scholar]
  23. Vallat JM, Ouvrier RA, Pollard JD, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008 ; 67 : 1097-102. [Google Scholar]
  24. Cartoni R, Arnaud E, Médard JJ, et al. Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. Brain 2010 ; 133 : 1460-9. [Google Scholar]
  25. Misko A, Jiang S, Wegorzewska I, et al. Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex. J Neurosci 2010 ; 30 : 4232-40. [Google Scholar]
  26. Loiseau D, Chevrollier A, Verny C, et al. Mitochondrial Coupling Defect in Charcot-Marie-Tooth Type 2A disease. Ann Neurol 2007 ; 61 : 315-23. [Google Scholar]
  27. Chen H, Vermulst M, Wang YE, et al. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell 2010 ; 141 : 280-9. [Google Scholar]
  28. Niemann A, Ruegg M, La Padula V, et al. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 2005 ; 170 : 1067-78. [Google Scholar]
  29. Cassereau J, Chevrollier A, Gueguen N, et al. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). Neurogenetics 2009 ; 10 : 145-50. [Google Scholar]
  30. Mai S, Klinkenberg M, Auburger G, et al. Decreased expression of Drp1 and Fis1 mediates mitochondrial elongation in senescent cells and enhances resistance to oxidative stress through PINK1. J Cell Sci 2010 ; 123 : 917-26. [Google Scholar]
  31. Yang Y, Ouyang Y, Yang L, et al. Pink1 regulates mitochondrial dynamics throught interaction with the fission/fusion machinery. Proc Natl Acad Sci USA 2008 ; 105 : 7070-5. [Google Scholar]
  32. Ziviani E, Tao RN, Whitworth AJ. Drosophila Parkin requires PINK1 for mitochondrial translocation and ubiquinates mitofusin. Proc Natl Acad Sci USA 2010 ; 107 : 5018-23. [Google Scholar]
  33. Wang X, Su B, Siedlak SL, et al. Amyloid beta overproduction causes abnormal mitochondrial dynamics via differential modulation of mitochondrial fission/fusion proteins. Proc Natl Acad Sci USA 2008 ; 105 : 19318-23. [Google Scholar]
  34. Wang H, Lim PJ, Karbowski M, Monteiro MJ. Effects of overexpression of Huntingtin proteins on mitochondrial integrity. Hum Mol Genet 2008 ; 18 : 737-52. [Google Scholar]
  35. Fukui H, Moraes CT. The mitochondrial impairment, oxidative stress and neurodegeneration connection: reality or just an attractive hypothesis? Trends Neurosci 2008 ; 31 : 251-6. [Google Scholar]
  36. Vallat JM, Funalot B. La maladie de Charcot-Marie-Tooth. Med Sci (Paris) 2010 ; 26 : 842-7. [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.