Literature DB >> 12161614

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease.

N J Marchbank1, J E Craig, J P Leek, M Toohey, A J Churchill, A F Markham, D A Mackey, C Toomes, C F Inglehearn.   

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Year:  2002        PMID： 12161614      PMCID： PMC1735190          DOI： 10.1136/jmg.39.8.e47

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  23 in total

1.  A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Authors:  Yuriko Ban; Yusuke Yoshida; Satoshi Kawasaki; Chikako Mochida
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2007-06-20       Impact factor: 3.117

2.  Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Authors:  Takaaki Hayashi; Hiroyuki Sasano; Satoshi Katagiri; Kazushige Tsunoda; Shuhei Kameya; Mitsuru Nakazawa; Takeshi Iwata; Hiroshi Tsuneoka
Journal:  Jpn J Ophthalmol       Date:  2017-07-01       Impact factor: 2.447

Review 3.  Mitochondrial disorders and the eye.

Authors:  Nicole J Van Bergen; Rahul Chakrabarti; Evelyn C O'Neill; Jonathan G Crowston; Ian A Trounce
Journal:  Eye Brain       Date:  2011-09-26

Review 4.  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

5.  Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy.

Authors:  Gitte J Almind; Karen Grønskov; Dan Milea; Michael Larsen; Karen Brøndum-Nielsen; Jakob Ek
Journal:  BMC Med Genet       Date:  2011-04-04       Impact factor: 2.103

Review 6.  Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.

Authors:  Eleni Bagli; Anastasia K Zikou; Niki Agnantis; Georgios Kitsos
Journal:  In Vivo       Date:  2017 Jul-Aug       Impact factor: 2.155

7.  Regulation of acid-base transporters by reactive oxygen species following mitochondrial fragmentation.

Authors:  David Johnson; Erik Allman; Keith Nehrke
Journal:  Am J Physiol Cell Physiol       Date:  2012-01-11       Impact factor: 4.249

8.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195

Review 9.  A review of primary hereditary optic neuropathies.

Authors:  M Votruba; S Aijaz; A T Moore
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 10.  Disturbed mitochondrial dynamics and neurodegenerative disorders.

Authors:  Florence Burté; Valerio Carelli; Patrick F Chinnery; Patrick Yu-Wai-Man
Journal:  Nat Rev Neurol       Date:  2014-12-09       Impact factor: 42.937
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