Treatment strategies for inherited optic neuropathies: past, present and future

Visual and psychological morbidity among patients with autosomal dominant optic atrophy

(2013) Maura Bailie et al.   ACTA OPHTHALMOLOGICA

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

(2013) Piero Barboni et al.   BRAIN

Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy

(2013) T. Klopstock et al.   BRAIN

New treatments for mitochondrial disease—no time to drop our standards

(2013) Gerald Pfeffer et al.   Nature Reviews Neurology

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

(2013) G. Pfeffer et al.   NEUROLOGY

Dominant Optic Atrophy: Novel OPA1 Mutations and Revised Prevalence Estimates

(2013) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy

(2013) Anais Thouin et al.   PLoS One

Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy

(2012) Alfredo A. Sadun   ARCHIVES OF NEUROLOGY

Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy

(2012) Aurora Gómez-Durán et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse

(2012) Emmanuelle Sarzi et al.   BRAIN

Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets

(2012) Kamil S. Sitarz et al.   Current Neurology and Neuroscience Reports

Mitochondrial Gene Therapy Improves Respiration, Biogenesis, and Transcription in G11778A Leber's Hereditary Optic Neuropathy and T8993G Leigh's Syndrome Cells

(2012) Shilpa Iyer et al.   HUMAN GENE THERAPY

Hyperbaric Oxygen Therapy in the Treatment of Radiation Optic Neuropathy

(2012) Amina Malik et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Mitochondrial diseases

(2012) Anthony HV Schapira   LANCET

Autologous mesenchymal stem cells for the treatment of secondary progressive multiple sclerosis: an open-label phase 2a proof-of-concept study

(2012) Peter Connick et al.   LANCET NEUROLOGY

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

Treatment of hereditary optic neuropathies

(2012) Nancy J. Newman   Nature Reviews Neurology

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

(2012) C. S. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model

(2012) H. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acetyl-l-Carnitine Activates the Peroxisome Proliferator-Activated Receptor-γ Coactivators PGC-1α/PGC-1β–Dependent Signaling Cascade of Mitochondrial Biogenesis and Decreases the Oxidized Peroxiredoxins Content in Old Rat Liver

(2012) Vito Pesce et al.   REJUVENATION RESEARCH

Idebenone Treatment In Leber's Hereditary Optic Neuropathy

(2011) V. Carelli et al.   BRAIN

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

(2011) P Yu-Wai-Man et al.   EYE

Mitochondrial DNA disease: new options for prevention

(2011) L. Craven et al.   HUMAN MOLECULAR GENETICS

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

(2010) Chiara La Morgia et al.   BRAIN

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Current approaches and future prospects for stem cell rescue and regeneration of the retina and optic nerve

(2010) Annegret Dahlmann-Noor et al.   CANADIAN JOURNAL OF OPHTHALMOLOGY-JOURNAL CANADIEN D OPHTALMOLOGIE

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

(2010) Patrick Yu-Wai-Man et al.   HUMAN MOLECULAR GENETICS

Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups

(2010) Aurora Gómez-Durán et al.   HUMAN MOLECULAR GENETICS

Stemming vision loss with stem cells

(2010) Valentina Marchetti et al.   JOURNAL OF CLINICAL INVESTIGATION

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

(2010) Lyndsey Craven et al.   NATURE

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

(2010) Patrick Yu-Wai-Man et al.   OPHTHALMOLOGY

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Acetyl-l-Carnitine Supplementation to Old Rats Partially Reverts the Age-Related Mitochondrial Decay of Soleus Muscle by Activating Peroxisome Proliferator-Activated Receptor γ Coactivator-1α–Dependent Mitochondrial Biogenesis

(2010) Vito Pesce et al.   REJUVENATION RESEARCH

The Neuro-ophthalmology of Mitochondrial Disease

(2010) J. Alexander Fraser et al.   SURVEY OF OPHTHALMOLOGY

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novelOPA1mutations

(2009) Marc Ferré et al.   HUMAN MUTATION

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

(2009) Jacqueline Palace   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

Mitochondrial DNA Haplogroups M7b1′2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G→A Mutation

(2008) Yanli Ji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimized Allotopic Expression of the Human Mitochondrial ND4 Prevents Blindness in a Rat Model of Mitochondrial Dysfunction

(2008) Sami Ellouze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hereditary optic neuropathies share a common mitochondrial coupling defect

(2008) Arnaud Chevrollier et al.   ANNALS OF NEUROLOGY

Respiratory Complex I Dysfunction Due to Mitochondrial DNA Mutations Shifts the Voltage Threshold for Opening of the Permeability Transition Pore toward Resting Levels

(2008) Anna Maria Porcelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

(2008) Lynsey M Cree et al.   NATURE GENETICS

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

(2008) Suma P. Shankar et al.   OPHTHALMIC GENETICS