Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

Otx2 Promotes the Survival of Damaged Adult Retinal Ganglion Cells and Protects against Excitotoxic Loss of Visual Acuity In Vivo

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Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2

(2010) E Hangen et al.   CELL DEATH AND DIFFERENTIATION

Pathophysiology of human glaucomatous optic nerve damage: Insights from rodent models of glaucoma

(2010) John C. Morrison et al.   EXPERIMENTAL EYE RESEARCH

Metabolic Vulnerability Disposes Retinal Ganglion Cell Axons to Dysfunction in a Model of Glaucomatous Degeneration

(2010) S. Baltan et al.   JOURNAL OF NEUROSCIENCE

Successful Amelioration of Mitochondrial Optic Neuropathy Using the Yeast NDI1 Gene in a Rat Animal Model

(2010) Mathieu Marella et al.   PLoS One

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

(2010) Artur V. Cideciyan   PROGRESS IN RETINAL AND EYE RESEARCH

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

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

The Neuro-ophthalmology of Mitochondrial Disease

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

Therapeutic prospects for mitochondrial disease

(2010) Eric A. Schon et al.   TRENDS IN MOLECULAR MEDICINE

Changes of Mitochondria and Relocation of the Apoptosis-Inducing Factor during Apoptosis

(2009) A. Ivana Scovassi et al.   Annals of the New York Academy of Sciences

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

(2009) Valerio Carelli et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Intravitreal NGF administration counteracts retina degeneration after permanent carotid artery occlusion in rat

(2009) Sandra Sivilia et al.   BMC NEUROSCIENCE

Detection of early neuron degeneration and accompanying glial responses in the visual pathway in a rat model of acute intraocular hypertension

(2009) ShaoDan Zhang et al.   BRAIN RESEARCH

Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade

(2009) Douglas S. Kerr   MOLECULAR GENETICS AND METABOLISM

Inner Limiting Membrane Barriers to AAV-mediated Retinal Transduction From the Vitreous

(2009) Deniz Dalkara et al.   MOLECULAR THERAPY

Distinct Roles of Transcription Factors Brn3a and Brn3b in Controlling the Development, Morphology, and Function of Retinal Ganglion Cells

(2009) Tudor C. Badea et al.   NEURON

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

Cellular tropism and transduction properties of seven adeno-associated viral vector serotypes in adult retina after intravitreal injection

(2008) M Hellström et al.   GENE THERAPY

Inherited mitochondrial optic neuropathies

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

Retinal Ganglion Cells Downregulate Gene Expression and Lose Their Axons within the Optic Nerve Head in a Mouse Glaucoma Model

(2008) I. Soto et al.   JOURNAL OF NEUROSCIENCE

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes

(2008) Paule Bénit et al.   PLoS One

Ocular gene therapy: current progress and future prospects

(2008) Pasqualina Colella et al.   TRENDS IN MOLECULAR MEDICINE

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY