Literature DB >> 25729642

Leber Hereditary Optic Neuropathy - Therapeutic Challenges and Early Promise.

Patrick Yu-Wai-Man1, Patrick F Chinnery2.   

Abstract

Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) disorder in the general population. It is an important cause of severe, usually irreversible, visual loss among young adults with a peak age of onset in the second and third decades of life. Management is currently mostly supportive but recent developments in LHON research are pointing the way towards more effective treatments for this blinding mitochondrial disorder.

Entities:  

Year:  2011        PMID： 25729642      PMCID： PMC4340545          DOI： 10.1016/j.tjo.2011.09.001

Source DB:  PubMed          Journal:  Taiwan J Ophthalmol        ISSN： 2211-5056


  16 in total

1.  Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation.

Authors:  A E Harding; M G Sweeney; D H Miller; C J Mumford; H Kellar-Wood; D Menard; W I McDonald; D A Compston
Journal:  Brain       Date:  1992-08       Impact factor: 13.501

Review 2.  The neuro-ophthalmology of mitochondrial disease.

Authors:  J Alexander Fraser; Valérie Biousse; Nancy J Newman
Journal:  Surv Ophthalmol       Date:  2010-05-14       Impact factor: 6.048

3.  Idebenone treatment in Leber's hereditary optic neuropathy.

Authors:  Valerio Carelli; Chiara La Morgia; Maria Lucia Valentino; Giovanni Rizzo; Michele Carbonelli; Anna Maria De Negri; Federico Sadun; Arturo Carta; Silvana Guerriero; Francesca Simonelli; Alfredo Arrigo Sadun; Divya Aggarwal; Rocco Liguori; Patrizia Avoni; Agostino Baruzzi; Massimo Zeviani; Pasquale Montagna; Piero Barboni
Journal:  Brain       Date:  2011-08-02       Impact factor: 13.501

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.  Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

Authors:  P F Chinnery; R M Andrews; D M Turnbull; N N Howell
Journal:  Am J Med Genet       Date:  2001-01-22

6.  NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels.

Authors:  Roman H Haefeli; Michael Erb; Anja C Gemperli; Dimitri Robay; Isabelle Courdier Fruh; Corinne Anklin; Robert Dallmann; Nuri Gueven
Journal:  PLoS One       Date:  2011-03-31       Impact factor: 3.240

7.  A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.

Authors:  Thomas Klopstock; Patrick Yu-Wai-Man; Konstantinos Dimitriadis; Jacinthe Rouleau; Suzette Heck; Maura Bailie; Alaa Atawan; Sandip Chattopadhyay; Marion Schubert; Aylin Garip; Marcus Kernt; Diana Petraki; Christian Rummey; Mika Leinonen; Günther Metz; Philip G Griffiths; Thomas Meier; Patrick F Chinnery
Journal:  Brain       Date:  2011-07-25       Impact factor: 13.501

Review 8.  The inheritance of pathogenic mitochondrial DNA mutations.

Authors:  L M Cree; D C Samuels; P F Chinnery
Journal:  Biochim Biophys Acta       Date:  2009-03-19

9.  Gene-environment interactions in Leber hereditary optic neuropathy.

Authors:  Matthew Anthony Kirkman; Patrick Yu-Wai-Man; Alex Korsten; Miriam Leonhardt; Konstantin Dimitriadis; Ireneaus F De Coo; Thomas Klopstock; Patrick Francis Chinnery
Journal:  Brain       Date:  2009-06-12       Impact factor: 13.501

Review 10.  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
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  3 in total

1.  Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis.

Authors:  Ghada Al-Kafaji; Maram A Alharbi; Hasan Alkandari; Abdel Halim Salem; Moiz Bakhiet
Journal:  Sci Rep       Date:  2022-06-30       Impact factor: 4.996

2.  Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Authors:  Majida Charif; Céline Bris; David Goudenège; Valérie Desquiret-Dumas; Estelle Colin; Alban Ziegler; Vincent Procaccio; Pascal Reynier; Dominique Bonneau; Guy Lenaers; Patrizia Amati-Bonneau
Journal:  Front Neurol       Date:  2021-03-25       Impact factor: 4.003

Review 3.  Mitochondrial DNA Integrity: Role in Health and Disease.

Authors:  Priyanka Sharma; Harini Sampath
Journal:  Cells       Date:  2019-01-29       Impact factor: 6.600
  3 in total

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