Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis

The cell biology of mitochondrial membrane dynamics

(2020) Marta Giacomello et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Structural analysis of a trimeric assembly of the mitochondrial dynamin-like GTPase Mgm1

(2020) Liming Yan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2020) Yifan Ge et al.   eLife

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

The short variant of optic atrophy 1 (OPA1) improves cell survival under oxidative stress

(2020) Hakjoo Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural insights into G domain dimerization and pathogenic mutation of OPA1

(2020) Caiting Yu et al.   JOURNAL OF CELL BIOLOGY

Cryo-EM structures of S-OPA1 reveal its interactions with membrane and changes upon nucleotide binding

(2020) Danyang Zhang et al.   eLife

MICOS assembly controls mitochondrial inner membrane remodeling and crista junction redistribution to mediate cristae formation

(2020) Till Stephan et al.   EMBO JOURNAL

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

(2020) Marta Zaninello et al.   Nature Communications

Optic Atrophy 1 Controls Human Neuronal Development by Preventing Aberrant Nuclear DNA Methylation

(2020) Safak Caglayan et al.   iScience

Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution

(2020) Cameron S. Cowan et al.   CELL

Expanding and validating the biomarkers for mitochondrial diseases

(2020) Alessandra Maresca et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Altered mitochondrial fusion drives defensive glutathione synthesis in cells able to switch to glycolytic ATP production

(2020) David A. Patten et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

(2020) Serena J Aleo et al.   HUMAN MOLECULAR GENETICS

Identification of new OPA1 cleavage site reveals that short isoforms regulate mitochondrial fusion

(2020) Ruohan Wang et al.   MOLECULAR BIOLOGY OF THE CELL

A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects

(2019) Thomas Delerue et al.   Disease Models & Mechanisms

A zebrafish model to study small-fiber neuropathy reveals a potential role for GDAP1

(2019) Ivo Eijkenboom et al.   MITOCHONDRION

Induced pluripotent stem cells in disease modelling and drug discovery

(2019) R. Grant Rowe et al.   NATURE REVIEWS GENETICS

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

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

Structure and assembly of the mitochondrial membrane remodelling GTPase Mgm1

(2019) Katja Faelber et al.   NATURE

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

Intrafamilial “DOA‐plus” phenotype variability related to different OMI/HTRA2 expression

(2019) Filomena Napolitano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial Dynamics and Its Involvement in Disease

(2019) David C. Chan   Annual Review of Pathology-Mechanisms of Disease

OPA1 overexpression ameliorates mitochondrial cristae remodeling, mitochondrial dysfunction, and neuronal apoptosis in prion diseases

(2019) Wei Wu et al.   Cell Death & Disease

OPA1 regulates respiratory supercomplexes assembly: The role of mitochondrial swelling

(2019) Sehwan Jang et al.   MITOCHONDRION

Reconstitution of the Human Nigro-striatal Pathway on-a-Chip Reveals OPA1-Dependent Mitochondrial Defects and Loss of Dopaminergic Synapses

(2019) Angelo Iannielli et al.   Cell Reports

Stem cell modeling of mitochondrial parkinsonism reveals key functions of OPA1

(2018) Mindaugas Jonikas et al.   ANNALS OF NEUROLOGY

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

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

Mitochondrial DNA and TLR9 drive muscle inflammation upon Opa1 deficiency

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

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

OPA1: How much do we know to approach therapy?

(2018) Valentina Del Dotto et al.   PHARMACOLOGICAL RESEARCH

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

(2018) Emmanuelle Sarzi et al.   Scientific Reports

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

(2018) Angelo Iannielli et al.   Cell Reports

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

The cristae modulator Optic atrophy 1 requires mitochondrial ATP synthase oligomers to safeguard mitochondrial function

(2018) Rubén Quintana-Cabrera et al.   Nature Communications

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

(2018) Cinzia Bocca et al.   Scientific Reports

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1

(2017) Anna Rubegni et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Molecular basis of selective mitochondrial fusion by heterotypic action between OPA1 and cardiolipin

(2017) Tadato Ban et al.   NATURE CELL BIOLOGY

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

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C > A; p.Ser545Arg

(2017) Francisco Zurita-Díaz et al.   Stem Cell Research

Increased mitochondrial fusion allows the survival of older animals in diverse C. elegans longevity pathways

(2017) Snehal N. Chaudhari et al.   Nature Communications

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis

(2017) Juanjuan Zhang et al.   Scientific Reports

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

(2017) Valentina Del Dotto et al.   Cell Reports

Mitophagy receptor FUNDC1 regulates mitochondrial dynamics and mitophagy

(2016) Ming Chen et al.   Autophagy

OPA1 functionally interacts with MIC60 but is dispensable for crista junction formation

(2016) Miguel Barrera et al.   FEBS LETTERS

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

(2016) Jenni M. Lehtonen et al.   NEUROLOGY

Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene

(2016) Teresa Galera-Monge et al.   Stem Cell Research

Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

(2016) Stefan Hauser et al.   Stem Cell Research

Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets

(2016) Jing Chen et al.   Stem Cell Research & Therapy

Optic Atrophy 1 Is Epistatic to the Core MICOS Component MIC60 in Mitochondrial Cristae Shape Control

(2016) Christina Glytsou et al.   Cell Reports

A multiple sclerosis-like disorder in patients withOPA1mutations

(2016) Patrick Yu-Wai-Man et al.   Annals of Clinical and Translational Neurology

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis

(2016) Aurélie M. C. Millet et al.   Annals of Clinical and Translational Neurology

The BCL-2–like protein CED-9 ofC. eleganspromotes FZO-1/Mfn1,2– and EAT-3/Opa1–dependent mitochondrial fusion

(2016) Stéphane G. Rolland et al.   JOURNAL OF CELL BIOLOGY

Increase in Cardiac Ischemia-Reperfusion Injuries in Opa1+/- Mouse Model

(2016) Sophie Le Page et al.   PLoS One

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

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

(2015) Gabriele Civiletto et al.   Cell Metabolism

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

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

Mitochondrial Genome Maintenance 1 (Mgm1) Protein Alters Membrane Topology and Promotes Local Membrane Bending

(2015) Jarungjit Rujiviphat et al.   JOURNAL OF MOLECULAR BIOLOGY

Restoration of Opa1-long isoform inhibits retinal injury-induced neurodegeneration

(2015) Yue Sun et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy

(2015) Cecilia Nolli et al.   MITOCHONDRION

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

(2014) T. Bonifert 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

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

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

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

Opa1 Is Required for Proper Mitochondrial Metabolism in Early Development

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

Non-Image-Forming Light Driven Functions Are Preserved in a Mouse Model of Autosomal Dominant Optic Atrophy

(2013) Georgia Perganta et al.   PLoS One

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

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

Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations

(2012) Virginie Agier 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

Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity

(2012) Pete A. Williams et al.   BRAIN

Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload

(2012) Jerome Piquereau et al.   CARDIOVASCULAR RESEARCH

Loss of OPA1 disturbs cellular calcium homeostasis and sensitizes for excitotoxicity

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

Membrane Tethering and Nucleotide-dependent Conformational Changes Drive Mitochondrial Genome Maintenance (Mgm1) Protein-mediated Membrane Fusion

(2012) Inbal Abutbul-Ionita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

The Effect of OPA1 on Mitochondrial Ca2+ Signaling

(2011) László Fülöp et al.   PLoS One

A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics

(2011) D Nguyen et al.   Cell Death & Disease

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

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

Processing of the dynamin Msp1p inS. pombereveals an evolutionary switch between its orthologs Mgm1p inS. cerevisiaeand OPA1 in mammals

(2010) Ingrid Leroy et al.   FEBS LETTERS

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

(2010) G. Elachouri et al.   GENOME RESEARCH

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

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

(2010) Piero Barboni et al.   OPHTHALMOLOGY

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

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

The Dynamin-Related Protein Mgm1p Assembles into Oligomers and Hydrolyzes GTP To Function in Mitochondrial Membrane Fusion†

(2009) Gabriela Meglei et al.   BIOCHEMISTRY

Distinct roles of the two isoforms of the dynamin-like GTPase Mgm1 in mitochondrial fusion

(2009) Michael Zick et al.   FEBS LETTERS

OPA1-associated disorders: Phenotypes and pathophysiology

(2009) Patrizia Amati-Bonneau et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Phospholipid Association Is Essential for Dynamin-related Protein Mgm1 to Function in Mitochondrial Membrane Fusion

(2009) Jarungjit Rujiviphat et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Coassembly of Mgm1 isoforms requires cardiolipin and mediates mitochondrial inner membrane fusion

(2009) Rachel M. DeVay et al.   JOURNAL OF CELL BIOLOGY

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

Transmembrane segments of the dynamin Msp1p uncouple its functions in the control of mitochondrial morphology and genome maintenance

(2009) A. Diot et al.   JOURNAL OF CELL SCIENCE

Heterozygous Mutation of Opa1 in Drosophila Shortens Lifespan Mediated through Increased Reactive Oxygen Species Production

(2009) Sha Tang et al.   PLoS One

Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner

(2009) Parvin Shahrestani et al.   PLoS One

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

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

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function

(2008) Marco Spinazzi et al.   HUMAN MOLECULAR GENETICS

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

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

The C. elegans Opa1 Homologue EAT-3 Is Essential for Resistance to Free Radicals

(2008) Takayuki Kanazawa et al.   PLoS Genetics

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

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