Literature DB >> 8533781

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

H R Cock, J M Cooper, A H Schapira.   

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Year:  1995        PMID： 8533781      PMCID： PMC1801418     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Authors:  D Mackey; N Howell
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

2.  A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

Authors:  W D Parker; C A Oley; J K Parks
Journal:  N Engl J Med       Date:  1989-05-18       Impact factor: 91.245

3.  A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance.

Authors:  D C Wallace
Journal:  Brain       Date:  1970       Impact factor: 13.501

Review 4.  Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations.

Authors:  P Riordan-Eva; A E Harding
Journal:  J Med Genet       Date:  1995-02       Impact factor: 6.318

5.  Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Authors:  N Howell; I Kubacka; M Xu; D A McCullough
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

6.  Platelet mitochondrial function in Leber's hereditary optic neuropathy.

Authors:  P R Smith; J M Cooper; G G Govan; A E Harding; A H Schapira
Journal:  J Neurol Sci       Date:  1994-03       Impact factor: 3.181

7.  Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

Authors:  A Majander; K Huoponen; M L Savontaus; E Nikoskelainen; M Wikström
Journal:  FEBS Lett       Date:  1991-11-04       Impact factor: 4.124

8.  Leber's hereditary optic neuropathy and complex I deficiency in muscle.

Authors:  N G Larsson; O Andersen; E Holme; A Oldfors; J Wahlström
Journal:  Ann Neurol       Date:  1991-11       Impact factor: 10.422

9.  Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.

Authors:  M Degli Esposti; V Carelli; A Ghelli; M Ratta; M Crimi; S Sangiorgi; P Montagna; G Lenaz; E Lugaresi; P Cortelli
Journal:  FEBS Lett       Date:  1994-10-03       Impact factor: 4.124
  9 in total
  8 in total

Review 1.  Generation of reactive oxygen species by mitochondrial complex I: implications in neurodegeneration.

Authors:  Romana Fato; Christian Bergamini; Serena Leoni; Paola Strocchi; Giorgio Lenaz
Journal:  Neurochem Res       Date:  2008-06-06       Impact factor: 3.996

Review 2.  Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?

Authors:  N Howell
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

Review 3.  Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Authors:  Patrick Yu-Wai-Man; Philip G Griffiths; Patrick F Chinnery
Journal:  Prog Retin Eye Res       Date:  2010-11-26       Impact factor: 21.198

Review 4.  Leber hereditary optic neuropathy.

Authors:  P Yu-Wai-Man; D M Turnbull; P F Chinnery
Journal:  J Med Genet       Date:  2002-03       Impact factor: 6.318

5.  Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy.

Authors:  A Torroni; V Carelli; M Petrozzi; M Terracina; P Barboni; P Malpassi; D C Wallace; R Scozzari
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

6.  Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.

Authors:  Lorenzo Peverelli; Alessia Catania; Silvia Marchet; Paola Ciasca; Gabriella Cammarata; Lisa Melzi; Antonella Bellino; Roberto Fancellu; Eleonora Lamantea; Mariantonietta Capristo; Leonardo Caporali; Chiara La Morgia; Valerio Carelli; Daniele Ghezzi; Stefania Bianchi Marzoli; Costanza Lamperti
Journal:  Front Neurol       Date:  2021-06-09       Impact factor: 4.003

Review 7.  Inherited mitochondrial optic neuropathies.

Authors:  P Yu-Wai-Man; P G Griffiths; G Hudson; P F Chinnery
Journal:  J Med Genet       Date:  2008-11-10       Impact factor: 6.318

8.  Mitochondrial Transfer of the Mutant Human ND6T14484C Gene Causes Visual Loss and Optic Neuropathy.

Authors:  Hong Yu; David W Sant; Gaofeng Wang; John Guy
Journal:  Transl Vis Sci Technol       Date:  2020-10-01       Impact factor: 3.283
  8 in total

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