Literature DB >> 7726182

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

T Lamminen, A Majander, V Juvonen, M Wikström, P Aula, E Nikoskelainen, M L Savontous.   

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Year:  1995        PMID： 7726182      PMCID： PMC1801467     

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


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  10 in total

Review 1.  Correlations of structure and function in H+ translocating subunit c of F1F0 ATP synthase.

Authors:  R H Fillingame; M E Girvin; D Fraga; Y Zhang
Journal:  Ann N Y Acad Sci       Date:  1992-11-30       Impact factor: 5.691

2.  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

3.  Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

Authors:  S Marzuki; A S Noer; P Lertrit; D Thyagarajan; R Kapsa; P Utthanaphol; E Byrne
Journal:  Hum Genet       Date:  1991-12       Impact factor: 4.132

4.  Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Authors:  M D Brown; A S Voljavec; M T Lott; A Torroni; C C Yang; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

5.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

6.  Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.

Authors:  J Vilkki; M L Savontaus; E K Nikoskelainen
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

7.  Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Authors:  D C Wallace; G Singh; M T Lott; J A Hodge; T G Schurr; A M Lezza; L J Elsas; E K Nikoskelainen
Journal:  Science       Date:  1988-12-09       Impact factor: 47.728

8.  A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; J Vilkki; P Aula; E K Nikoskelainen; M L Savontaus
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

9.  A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

Authors:  D D de Vries; B G van Engelen; F J Gabreëls; W Ruitenbeek; B A van Oost
Journal:  Ann Neurol       Date:  1993-09       Impact factor: 10.422

10.  The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

Authors:  K Huoponen; T Lamminen; V Juvonen; P Aula; E Nikoskelainen; M L Savontaus
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132
  10 in total
  17 in total

Review 1.  Transport ATPases in biological systems and relationship to human disease: a brief overview.

Authors:  Peter L Pedersen
Journal:  J Bioenerg Biomembr       Date:  2002-10       Impact factor: 2.945

Review 2.  Mitochondrial DNA mutations and pathogenesis.

Authors:  E A Schon; E Bonilla; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1997-04       Impact factor: 2.945

Review 3.  Novel therapeutic approaches for Leber's hereditary optic neuropathy.

Authors:  Shilpa Iyer
Journal:  Discov Med       Date:  2013-03       Impact factor: 2.970

4.  Leber's hereditary optic neuropathy with the 3434, 9011 mitochondrial DNA point mutation.

Authors:  Kyoko Shidara; Masato Wakakura
Journal:  Jpn J Ophthalmol       Date:  2011-12-20       Impact factor: 2.447

Review 5.  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

6.  Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Authors:  Pirjo Isohanni; Christopher J Carroll; Christopher B Jackson; Max Pohjanpelto; Tuula Lönnqvist; Anu Suomalainen
Journal:  Neurogenetics       Date:  2018-01-19       Impact factor: 2.660

7.  Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

Authors:  D D De Vries; L N Went; G W Bruyn; H R Scholte; R M Hofstra; P A Bolhuis; B A van Oost
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

8.  Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.

Authors:  Manoj Kumar; Mukesh Tanwar; Rohit Saxena; Pradeep Sharma; Rima Dada
Journal:  Mol Vis       Date:  2010-04-30       Impact factor: 2.367

9.  Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

Authors:  Yanli Ji; A-Mei Zhang; Xiaoyun Jia; Ya-Ping Zhang; Xueshan Xiao; Shiqiang Li; Xiangming Guo; Hans-Jürgen Bandelt; Qingjiong Zhang; Yong-Gang Yao
Journal:  Am J Hum Genet       Date:  2008-11-20       Impact factor: 11.025

10.  Mitochondrial DNA mutations with Leber's hereditary optic neuropathy in Japanese patients with open-angle glaucoma.

Authors:  Yoko Inagaki; Yukihiko Mashima; Nobuo Fuse; Yuichiro Ohtake; Takuro Fujimaki; Takeo Fukuchi
Journal:  Jpn J Ophthalmol       Date:  2006 Mar-Apr       Impact factor: 2.211
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