Dominant optic atrophy: Culprit mitochondria in the optic nerve

Two forms of Opa1 cooperate to complete fusion of the mitochondrial inner-membrane

(2020) Yifan Ge et al.   eLife

An Upstream Open Reading Frame Represses Translation of Chicken PPARγ Transcript Variant 1

(2020) Yankai Chu et al.   Frontiers in Genetics

Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations

(2020) Megan E. Rech et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

(2020) Leonardo Caporali et al.   ANNALS OF NEUROLOGY

Glia-to-Neuron Conversion by CRISPR-CasRx Alleviates Symptoms of Neurological Disease in Mice

(2020) Haibo Zhou et al.   CELL

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity

(2020) Juan Manuel Chao de la Barca et al.   HUMAN MOLECULAR GENETICS

Opportunities and challenges for antisense oligonucleotide therapies

(2020) Elsa C. Kuijper et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

(2020) Chiara La Morgia et al.   Scientific Reports

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1 ‐dominant optic atrophy

(2020) Martina Romagnoli et al.   Annals of Clinical and Translational Neurology

Retinal Ganglion Cell Survival and Axon Regeneration after Optic Nerve Transection is Driven by Cellular Intravitreal Sciatic Nerve Grafts

(2020) Zubair Ahmed et al.   Cells

OPA1-Exon4b Binds to mtDNA D-Loop for Transcriptional and Metabolic Modulation, Independent of Mitochondrial Fusion

(2020) Liang Yang et al.   Frontiers in Cell and Developmental Biology

Improvement in inner retinal function in glaucoma with nicotinamide (vitamin B3 ) supplementation: A crossover randomized clinical trial

(2020) Flora Hui et al.   CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy

(2020) Marta Zaninello et al.   Nature Communications

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

(2020) Majida Charif et al.   Neurology-Genetics

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

(2020) Marie Anne-Catherine Neumann et al.   Scientific Reports

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

(2020) Nicole Weisschuh et al.   BMC Medical Genetics

Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber’s Hereditary Optic Neuropathy and Dominant Optic Atrophy

(2019) Samuel Asanad et al.   CURRENT EYE RESEARCH

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

(2019) Riccardo Sangermano et al.   GENETICS IN MEDICINE

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

(2019) Morgan L. Maeder et al.   NATURE MEDICINE

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L -related mitochondrial epileptic encephalopathy

(2019) Daniela Verrigni et al.   HUMAN MUTATION

Therapeutic Antisense Oligonucleotides Are Coming of Age

(2019) C. Frank Bennett   Annual Review of Medicine

Metabolic stroke in a patient with bi-allelic OPA1 mutations

(2019) Ayelet Zerem et al.   METABOLIC BRAIN DISEASE

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

(2019) Neringa Jurkute et al.   ANNALS OF NEUROLOGY

Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts

(2019) Cinzia Bocca et al.   JOURNAL OF PROTEOME RESEARCH

Steric Inhibition of 5′ UTR Regulatory Elements Results in Upregulation of Human CFTR

(2019) Shruti Sasaki et al.   MOLECULAR THERAPY

The Metabolomic Signature of Opa1 Deficiency in Rat Primary Cortical Neurons Shows Aspartate/Glutamate Depletion and Phospholipids Remodeling

(2019) Juan Manuel Chao de la Barca et al.   Scientific Reports

Melanopsin-Containing ipRGCs Are Resistant to Excitotoxic Injury and Maintain Functional Non-Image Forming Behaviors After Insult in a Diurnal Rodent Model

(2019) Garrett M. Fogo et al.   NEUROSCIENCE

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

(2019) Bastien Le Roux et al.   Orphanet Journal of Rare Diseases

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

(2019) Camille Piro-Mégy et al.   JOURNAL OF CLINICAL INVESTIGATION

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

(2019) Valentina Del Dotto et al.   JOURNAL OF CLINICAL INVESTIGATION

Depletion of mitochondrial protease OMA1 alters proliferative properties and promotes metastatic growth of breast cancer cells

(2019) Amita Daverey et al.   Scientific Reports

Synaptic Specializations of Melanopsin-Retinal Ganglion Cells in Multiple Brain Regions Revealed by Genetic Label for Light and Electron Microscopy

(2019) Keun-Young Kim et al.   Cell Reports

OPA1 regulates respiratory supercomplexes assembly: The role of mitochondrial swelling

(2019) Sehwan Jang et al.   MITOCHONDRION

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

(2019) Saskia Breuel et al.   Molecular Therapy-Nucleic Acids

Current mechanistic insights into the CCCP-induced cell survival response

(2018) Mariame Selma Kane et al.   BIOCHEMICAL PHARMACOLOGY

Eight human OPA1 isoforms, long and short: What are they for?

(2018) Valentina Del Dotto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease

(2018) Michele Bertacchi et al.   BRAIN RESEARCH

Mitochondrial DNA and TLR9 drive muscle inflammation upon Opa1 deficiency

(2018) Aida Rodríguez‐Nuevo et al.   EMBO JOURNAL

RNA Trans-Splicing Modulation via Antisense Molecule Interference

(2018) Bernadette Liemberger et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics

(2018) Francesco Consolato et al.   JOURNAL OF CELL SCIENCE

OPA1-anchored PKA phosphorylates perilipin 1 on S522 and S497 in adipocytes differentiated from human adipose stem cells

(2018) Marie Rogne et al.   MOLECULAR BIOLOGY OF THE CELL

Wolfram syndrome: MAMs’ connection?

(2018) Benjamin Delprat et al.   Cell Death & Disease

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

(2018) Emmanuelle Sarzi et al.   Scientific Reports

Idebenone: Novel Strategies to Improve Its Systemic and Local Efficacy

(2018) Lucia Montenegro et al.   Nanomaterials

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

(2018) Valentina Del Dotto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches

(2018) Neringa Jurkute et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

(2018) Michelle Ham et al.   MITOCHONDRION

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

(2018) Selena Trifunov et al.   Scientific Reports

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

(2018) Cinzia Bocca et al.   Scientific Reports

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

(2018) Kalyan Dulla et al.   Molecular Therapy-Nucleic Acids

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome

(2018) Claire Angebault et al.   Science Signaling

Microfluidic isoform sequencing shows widespread splicing coordination in the human transcriptome

(2017) Hagen Tilgner et al.   GENOME RESEARCH

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

(2017) Takaaki Hayashi et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

The short variant of the mitochondrial dynamin OPA1 maintains mitochondrial energetics and cristae structure

(2017) Hakjoo Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

(2017) Mariame Selma Kane et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Visual light effects on mitochondria: The potential implications in relation to glaucoma

(2017) Neville N. Osborne et al.   MITOCHONDRION

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy

(2017) Nicole Balducci et al.   MITOCHONDRION

Antisense oligonucleotides targeting translation inhibitory elements in 5′ UTRs can selectively increase protein levels

(2017) Xue-hai Liang et al.   NUCLEIC ACIDS RESEARCH

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

(2017) Alessia Nasca et al.   Orphanet Journal of Rare Diseases

Vitamin B 3 modulates mitochondrial vulnerability and prevents glaucoma in aged mice

(2017) Pete A. Williams et al.   SCIENCE

Dominant Optic Atrophy and Leber’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches

(2017) Bo Young Chun et al.   Seminars in Pediatric Neurology

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

(2017) Valentina Del Dotto et al.   Cell Reports

A neurodegenerative perspective on mitochondrial optic neuropathies

(2016) Patrick Yu-Wai-Man et al.   ACTA NEUROPATHOLOGICA

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy

(2016) Maki Inoue et al.   ACTA OPHTHALMOLOGICA

A novel de novo dominant negative mutation inDNM1Limpairs mitochondrial fission and presents as childhood epileptic encephalopathy

(2016) Jill A. Fahrner et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mito-Morphosis: Mitochondrial Fusion, Fission, and Cristae Remodeling as Key Mediators of Cellular Function

(2016) Lena Pernas et al.   Annual Review of Physiology

The membrane scaffold SLP2 anchors a proteolytic hub in mitochondria containing PARL and the i ‐AAA protease YME1L

(2016) Timothy Wai et al.   EMBO REPORTS

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

(2016) Chun-An Chen et al.   GENETICS IN MEDICINE

OPA1 haploinsufficiency induces a BNIP3-dependent decrease in mitophagy in neurons: relevance to Dominant Optic Atrophy

(2016) Manon F Moulis et al.   JOURNAL OF NEUROCHEMISTRY

Translation efficiency of mRNAs is increased by antisense oligonucleotides targeting upstream open reading frames

(2016) Xue-hai Liang et al.   NATURE BIOTECHNOLOGY

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

(2016) Chunyan Liao et al.   NEUROLOGY

A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function

(2016) T.G. Smith et al.   NEUROSCIENCE

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity

(2016) Joanna Grenier et al.   OPHTHALMOLOGY

Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency

(2016) Y Kushnareva et al.   Cell Death & Disease

Role of Mitochondrial Dynamics in Neuronal Development: Mechanism for Wolfram Syndrome

(2016) Michal Cagalinec et al.   PLOS BIOLOGY

Inner membrane fusion mediates spatial distribution of axonal mitochondria

(2016) Yiyi Yu et al.   Scientific Reports

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

(2015) László Fülöp et al.   CELL CALCIUM

The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage

(2015) Tatiana Varanita et al.   Cell Metabolism

How Mitochondrial Dynamism Orchestrates Mitophagy

(2015) O. S. Shirihai et al.   CIRCULATION RESEARCH

Regulation of mitochondrial inner membrane fusion: divergent evolution with similar solutions?

(2015) Johannes Wagener   CURRENT GENETICS

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

(2015) Jason R Vanstone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations

(2015) R Da Costa et al.   GENE THERAPY

Exon-Specific U1s Correct SPINK5Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

(2015) Andrea Dal Mas et al.   HUMAN MUTATION

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygousOPA1mutation

(2015) Ronen Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Acute optic neuropathy associated with a novel MFN2 mutation

(2015) Luca Leonardi et al.   JOURNAL OF NEUROLOGY

The mitochondrial fission receptor Mff selectively recruits oligomerized Drp1

(2015) Raymond Liu et al.   MOLECULAR BIOLOGY OF THE CELL

A Cellular Perspective on Brain Energy Metabolism and Functional Imaging

(2015) Pierre J. Magistretti et al.   NEURON

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

(2015) T. Wai et al.   SCIENCE

Context influences on TALE–DNA binding revealed by quantitative profiling

(2015) Julia M. Rogers et al.   Nature Communications

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

(2015) Monica Nizzardo et al.   Scientific Reports

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability

(2015) Majida Charif et al.   Frontiers in Genetics

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

(2014) Daniëlle G.M. Bosch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early Macular Retinal Ganglion Cell Loss in Dominant Optic Atrophy: Genotype-Phenotype Correlation

(2014) Piero Barboni et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

(2014) T. Bonifert et al.   BRAIN

‘Behr syndrome’ with OPA1 compound heterozygote mutations

(2014) Valerio Carelli et al.   BRAIN

Proteolytic Cleavage of Opa1 Stimulates Mitochondrial Inner Membrane Fusion and Couples Fusion to Oxidative Phosphorylation

(2014) Prashant Mishra et al.   Cell Metabolism

Mutation update and uncommon phenotypes in a French cohort of 96 patients withWFS1-related disorders

(2014) A. Chaussenot et al.   CLINICAL GENETICS

OPA1-dependent cristae modulation is essential for cellular adaptation to metabolic demand

(2014) D. A. Patten et al.   EMBO JOURNAL

Stress-induced OMA1 activation and autocatalytic turnover regulate OPA1-dependent mitochondrial dynamics

(2014) M. J. Baker et al.   EMBO JOURNAL

Thei-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

(2014) Ruchika Anand et al.   JOURNAL OF CELL BIOLOGY

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy

(2014) Panagiotis I. Sergouniotis et al.   NEUROGENETICS

Melanopsin Ganglion Cells Are the Most Resistant Retinal Ganglion Cell Type to Axonal Injury in the Rat Retina

(2014) Luis Pérez de Sevilla Müller et al.   PLoS One

Activation of mitochondrial protease OMA1 by Bax and Bak promotes cytochrome c release during apoptosis

(2014) X. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Taurine: The comeback of a neutraceutical in the prevention of retinal degenerations

(2014) Nicolas Froger et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Charcot-Marie-Tooth Disease Type 2A

(2014) Francesco Bombelli et al.   JAMA Neurology

Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders

(2014) Ulrich Koller et al.   Molecular Therapy-Nucleic Acids

Why Mitochondria Must Fuse to Maintain Their Genome Integrity

(2013) Sara Vidoni et al.   ANTIOXIDANTS & REDOX SIGNALING

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

A novel heterozygousOPA3mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network

(2013) Tanja Grau et al.   JOURNAL OF MEDICAL GENETICS

Altered skeletal muscle mitochondrial biogenesis but improved endurance capacity in trained OPA1-deficient mice

(2013) F. Caffin et al.   JOURNAL OF PHYSIOLOGY-LONDON

An engineered U1 small nuclear RNA rescues splicing-defective coagulationF7gene expression in mice

(2013) D. Balestra et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

(2013) Pablo Perez-Pinera et al.   NATURE METHODS

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

(2013) G. Pfeffer et al.   NEUROLOGY

Opa1 Is Required for Proper Mitochondrial Metabolism in Early Development

(2013) Jennifer J. Rahn et al.   PLoS One

Retinal ganglion cells: Energetics, compartmentation, axonal transport, cytoskeletons and vulnerability

(2013) Dao-Yi Yu et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Where Killers Meet--Permeabilization of the Outer Mitochondrial Membrane during Apoptosis

(2013) T. Bender et al.   Cold Spring Harbor Perspectives in Biology

Gene Expression Regulation by Upstream Open Reading Frames and Human Disease

(2013) Cristina Barbosa et al.   PLoS Genetics

Is There a Causal Link between Inflammation and Dementia?

(2013) Ana-Maria Enciu et al.   Biomed Research International

OPA1 Mutation and Late‐Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability

(2013) Le Chen et al.   Journal of the American Heart Association

The dynamin GTPase OPA1: More than mitochondria?

(2012) Pascale Belenguer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

(2012) Gitte J Almind et al.   BMC Medical Genetics

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

(2012) Emmanuelle Sarzi et al.   BRAIN

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

Loss of OPA1 disturbs cellular calcium homeostasis and sensitizes for excitotoxicity

(2012) Y E Kushnareva et al.   CELL DEATH AND DIFFERENTIATION

OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

(2012) X. Ayrignac et al.   EUROPEAN NEUROLOGY

A Gene Therapeutic Approach to Correct Splice Defects with Modified U1 and U6 snRNPs

(2012) Fabian Schmid et al.   HUMAN GENE THERAPY

Universal heteroplasmy of human mitochondrial DNA

(2012) B. A. I. Payne et al.   HUMAN MOLECULAR GENETICS

Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity

(2012) Ursula Fünfschilling et al.   NATURE

A transcription activator-like effector toolbox for genome engineering

(2012) Neville E Sanjana et al.   Nature Protocols

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

(2012) K. S. Sitarz et al.   NEUROLOGY

Dominant optic atrophy

(2012) Guy Lenaers et al.   Orphanet Journal of Rare Diseases

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

(2011) Nanna D. Rendtorff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) Gitte J Almind et al.   BMC Medical Genetics

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis

(2011) Guillaume Pidoux et al.   EMBO JOURNAL

Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy

(2011) Alun R. Barnard et al.   EXPERIMENTAL EYE RESEARCH

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

(2011) P Yu-Wai-Man et al.   EYE

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16

(2011) Valerio Carelli et al.   HUMAN MOLECULAR GENETICS

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

(2011) Fabian Schmid et al.   HUMAN MUTATION

The dynamin-related GTPase Opa1 is required for glucose-stimulated ATP production in pancreatic beta cells

(2011) Zhongyan Zhang et al.   MOLECULAR BIOLOGY OF THE CELL

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

Gene Therapeutic Approach Using Mutation-adapted U1 snRNA to Correct a RPGR Splice Defect in Patient-derived Cells

(2011) Esther Glaus et al.   MOLECULAR THERAPY

Zinc fingers hit off target

(2011)   NATURE MEDICINE

Retinal Nerve Fiber Layer Thickness in Dominant Optic Atrophy

(2011) Piero Barboni et al.   OPHTHALMOLOGY

What Genetics Tells us About the Causes and Mechanisms of Parkinson's Disease

(2011) Olga Corti et al.   PHYSIOLOGICAL REVIEWS

The Effect of OPA1 on Mitochondrial Ca2+ Signaling

(2011) László Fülöp et al.   PLoS One

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

(2010) P. Yu-Wai-Man et al.   BRAIN

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

(2010) Chiara La Morgia et al.   BRAIN

Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy

(2010) P. A. Williams et al.   BRAIN

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

(2010) P. Yu-Wai-Man et al.   BRAIN

Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation

(2010) Seung-Wook Ryu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

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

OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation

(2010) Tadato Ban et al.   HUMAN MOLECULAR GENETICS

Tissue-specific differences in mitochondrial activity and biogenesis

(2010) Erika Fernández-Vizarra et al.   MITOCHONDRION

An Upstream Open Reading Frame and the Context of the Two AUG Codons Affect the Abundance of Mitochondrial and Nuclear RNase H1

(2010) Y. Suzuki et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2010) Nico Fuhrmann et al.   Molecular Neurodegeneration

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Characterization of Ca2+Signalling in Postnatal Mouse Retinal Ganglion Cells: Involvement of OPA1 in Ca2+Clearance

(2010) Govindan Dayanithi et al.   OPHTHALMIC GENETICS

OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size

(2010) Piero Barboni et al.   OPHTHALMOLOGY

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

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

Genome-Wide Analysis of Binding Sites and Direct Target Genes of the Orphan Nuclear Receptor NR2F1/COUP-TFI

(2010) Celina Montemayor et al.   PLoS One

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

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

OPA1 (dys)functions

(2010) Thomas Landes et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Axonal loss occurs early in dominant optic atrophy

(2009) Dan Milea et al.   ACTA OPHTHALMOLOGICA

HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHY

(2009) P. KJER et al.   ACTA OPHTHALMOLOGICA

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

(2009) Denis Pierron et al.   BMC Medical Genetics

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

(2009) Marcel V. Alavi et al.   EXPERIMENTAL NEUROLOGY

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

(2009) Marc Ferré et al.   HUMAN MUTATION

Regulation of OPA1 processing and mitochondrial fusion bym-AAA protease isoenzymes and OMA1

(2009) Sarah Ehses et al.   JOURNAL OF CELL BIOLOGY

Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells

(2009) Brian Head et al.   JOURNAL OF CELL BIOLOGY

OPA1 increases the risk of normal but not high tension glaucoma

(2009) P. Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

How the Optic Nerve Allocates Space, Energy Capacity, and Information

(2009) J. A. Perge et al.   JOURNAL OF NEUROSCIENCE

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

(2009) S. E. Calvo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-Wide Analysis in Vivo of Translation with Nucleotide Resolution Using Ribosome Profiling

(2009) N. T. Ingolia et al.   SCIENCE

Reversible optic neuropathy withOPA1exon 5b mutation

(2008) Karen Cornille et al.   ANNALS OF NEUROLOGY

Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential

(2008) Olwenn Guillery et al.   BIOLOGY OF THE CELL

The natural history of OPA1-related autosomal dominant optic atrophy

(2008) A C Cohn et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in theWFS1gene

(2008) R. Valro et al.   DIABETIC MEDICINE

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA

(2008) Gaby Tanner et al.   HUMAN MUTATION

Steroid and thyroid hormone receptors in mitochondria

(2008) Anna-Maria G. Psarra et al.   IUBMB LIFE

Characterization of OPA1 isoforms isolated from mouse tissues

(2008) Vasudheva Reddy Akepati et al.   JOURNAL OF NEUROCHEMISTRY

Opa1-Mediated Cristae Opening Is Bax/Bak and BH3 Dependent, Required for Apoptosis, and Independent of Bak Oligomerization

(2008) Ryuji Yamaguchi et al.   MOLECULAR CELL

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE

MULTIPLE SCLEROSIS-LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY

(2008) C. Verny et al.   NEUROLOGY

The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment

(2008) Will Yarosh et al.   PLoS Genetics

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

(2007) P. Amati-Bonneau et al.   BRAIN

Comprehensive cDNA study and quantitative transcript analysis of mutantOPA1transcripts containing premature termination codons

(2007) Simone Schimpf et al.   HUMAN MUTATION