The Role of Impaired Mitochondrial Dynamics in MFN2-Mediated Pathology

Mitochondrial Fission and Mitophagy Reciprocally Orchestrate Cardiac Fibroblasts Activation

(2021) Qing-Yuan Gao et al.   Frontiers in Cell and Developmental Biology

Balancing ER-Mitochondrial Ca2+ Fluxes in Health and Disease

(2021) Jens Loncke et al.   TRENDS IN CELL BIOLOGY

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease

(2021) Cara R. Schiavon et al.   Frontiers in Cell and Developmental Biology

Mitochondrial dynamics in health and disease

(2021) Nethmi M.B. Yapa et al.   FEBS LETTERS

Distinct fission signatures predict mitochondrial degradation or biogenesis

(2021) Tatjana Kleele et al.   NATURE

Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics

(2021) Govinda Sharma et al.   Biology-Basel

Ca2+ handling at the mitochondria-ER contact sites in neurodegeneration

(2021) Dmitry Lim et al.   CELL CALCIUM

Mfn2 localization in the ER is necessary for its bioenergetic function and neuritic development

(2021) Sergi Casellas‐Díaz et al.   EMBO REPORTS

The role of Mfn2 in the structure and function of endoplasmic reticulum-mitochondrial tethering in vivo

(2021) Song Han et al.   JOURNAL OF CELL SCIENCE

Oxidative bursts of single mitochondria mediate retrograde signaling toward the ER

(2021) David M. Booth et al.   MOLECULAR CELL

MFN2 Deficiency Impairs Mitochondrial Transport and Downregulates Motor Protein Expression in Human Spinal Motor Neurons

(2021) Yongchao Mou et al.   Frontiers in Molecular Neuroscience

Amyotrophic Lateral Sclerosis (ALS): Stressed by Dysfunctional Mitochondria-Endoplasmic Reticulum Contacts (MERCs)

(2021) Junsheng Chen et al.   Cells

Cnm1 mediates nucleus–mitochondria contact site formation in response to phospholipid levels

(2021) Michal Eisenberg-Bord et al.   JOURNAL OF CELL BIOLOGY

MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant

(2021) Rajdeep Das et al.   JOURNAL OF CELL SCIENCE

A new automated tool to quantify nucleoid distribution within mitochondrial networks

(2021) Hema Saranya Ilamathi et al.   Scientific Reports

The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort

(2021) Yan Ma et al.   Frontiers in Neurology

Mitochondria Endoplasmic Reticulum Contact Sites (MERCs): Proximity Ligation Assay as a Tool to Study Organelle Interaction

(2021) Sara Benhammouda et al.   Frontiers in Cell and Developmental Biology

Fission and fusion machineries converge at ER contact sites to regulate mitochondrial morphology

(2020) Robert G. Abrisch et al.   JOURNAL OF CELL BIOLOGY

Impaired mitochondrial–endoplasmic reticulum interaction and mitophagy in Miro1-mutant neurons in Parkinson’s disease

(2020) Clara Berenguer-Escuder et al.   HUMAN MOLECULAR GENETICS

Mitochondria-lysosome contacts regulate mitochondrial Ca2+dynamics via lysosomal TRPML1

(2020) Wesley Peng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1

(2020) Ingrid P. Meschede et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The ER chaperone calnexin controls mitochondrial positioning and respiration

(2020) Tomás Gutiérrez et al.   Science Signaling

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

(2020) Marta Zaninello et al.   Nature Communications

Lipid Droplets in Neurodegenerative Disorders

(2020) Brandon C. Farmer et al.   Frontiers in Neuroscience

Mitofusin 2 Dysfunction and Disease in Mice and Men

(2020) Gerald W. Dorn   Frontiers in Physiology

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

(2020) Antonietta Franco et al.   eLife

Mitochondrial dynamics: Shaping and remodeling an organelle network

(2020) Adam R. Fenton et al.   CURRENT OPINION IN CELL BIOLOGY

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

(2019) Delfina Larrea et al.   HUMAN MOLECULAR GENETICS

Altered interplay between endoplasmic reticulum and mitochondria in Charcot–Marie–Tooth type 2A neuropathy

(2019) Nathalie Bernard-Marissal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deficient Endoplasmic Reticulum-Mitochondrial Phosphatidylserine Transfer Causes Liver Disease

(2019) María Isabel Hernández-Alvarez et al.   CELL

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

(2019) Virginie G. Peter et al.   GENETICS IN MEDICINE

Linking mitochondrial dynamics, cristae remodeling and supercomplex formation: How mitochondrial structure can regulate bioenergetics

(2019) Nicole Baker et al.   MITOCHONDRION

Mitochondrial dynamics and their potential as a therapeutic target

(2019) B.N. Whitley et al.   MITOCHONDRION

Mitochondrial fusion is required for regulation of mitochondrial DNA replication

(2019) Eduardo Silva Ramos et al.   PLoS Genetics

The Multifunctional Sorting Protein PACS-2 Controls Mitophagosome Formation in Human Vascular Smooth Muscle Cells through Mitochondria-ER Contact Sites

(2019) Manon Moulis et al.   Cells

Perturbed mitochondria-ER contacts in live neurons modelling Alzheimer's disease amyloid pathology

(2019) Pamela V. Martino Adami et al.   JOURNAL OF CELL SCIENCE

The Mitochondria–Endoplasmic Reticulum Contacts and Their Critical Role in Aging and Age-Associated Diseases

(2019) Ornella Moltedo et al.   Frontiers in Cell and Developmental Biology

Mitochondrial Dynamics and Its Involvement in Disease

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

Staying in Healthy Contact: How Peroxisomes Interact with Other Cell Organelles

(2019) Yelena Sargsyan et al.   TRENDS IN MOLECULAR MEDICINE

Mul1 restrains Parkin-mediated mitophagy in mature neurons by maintaining ER-mitochondrial contacts

(2019) Rajat Puri et al.   Nature Communications

Miro clusters regulate ER-mitochondria contact sites and link cristae organization to the mitochondrial transport machinery

(2019) Souvik Modi et al.   Nature Communications

The Charcot–Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress

(2019) Christina Wolf et al.   Cells

Endoplasmic reticulum chaperones tweak the mitochondrial calcium rheostat to control metabolism and cell death

(2018) Tomas Gutiérrez et al.   CELL CALCIUM

Mitochondria Bound to Lipid Droplets Have Unique Bioenergetics, Composition, and Dynamics that Support Lipid Droplet Expansion

(2018) Ilan Y. Benador et al.   Cell Metabolism

Emerging Links between Lipid Droplets and Motor Neuron Diseases

(2018) Giuseppa Pennetta et al.   DEVELOPMENTAL CELL

Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy

(2018) Najla El Fissi et al.   EMBO REPORTS

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype

(2018) Giulia Iapadre et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mitochondria–lysosome contacts regulate mitochondrial fission via RAB7 GTP hydrolysis

(2018) Yvette C. Wong et al.   NATURE

A key role for MAM in mediating mitochondrial dysfunction in Alzheimer disease

(2018) Estela Area-Gomez et al.   Cell Death & Disease

The role of endoplasmic reticulum-mitochondria contact sites in the control of glucose homeostasis: an update

(2018) Jennifer Rieusset   Cell Death & Disease

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

(2018) Emilie Capel et al.   Journal of Clinical Lipidology

Regulation of Endoplasmic Reticulum-Mitochondria contacts by Parkin via Mfn2

(2018) Valentina Basso et al.   PHARMACOLOGICAL RESEARCH

The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

(2018) Katta M. Girisha et al.   HUMAN MUTATION

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

(2018) Lois Dankwa et al.   NEUROMUSCULAR DISORDERS

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

(2018) Małgorzata Beręsewicz et al.   Scientific Reports

ER–mitochondria contacts: Actin dynamics at the ER control mitochondrial fission via calcium release

(2017) Janos Steffen et al.   JOURNAL OF CELL BIOLOGY

A new mitofusin topology places the redox-regulated C terminus in the mitochondrial intermembrane space

(2017) Sevan Mattie et al.   JOURNAL OF CELL BIOLOGY

INF2-mediated actin polymerization at the ER stimulates mitochondrial calcium uptake, inner membrane constriction, and division

(2017) Rajarshi Chakrabarti et al.   JOURNAL OF CELL BIOLOGY

A novel fluorescent reporter detects plastic remodeling of mitochondria–ER contact sites

(2017) Zhaoying Yang et al.   JOURNAL OF CELL SCIENCE

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

(2017) José Berciano et al.   JOURNAL OF NEUROLOGY

Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterations

(2017) M. Masingue et al.   NEUROMUSCULAR DISORDERS

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

(2017) Nuno Rocha et al.   eLife

Is Alzheimer's Disease a Disorder of Mitochondria-Associated Membranes?

(2017) Eric A. Schon et al.   JOURNAL OF ALZHEIMERS DISEASE

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient

(2017) Małgorzata Beręsewicz et al.   PLoS One

Endoplasmic reticulum-mitochondrial interaction mediated by mitofusin-1 or mitofusin-2 is not required for lipid droplet formation or adipocyte differentiation

(2016) Pamela J. McFie et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The coming of age of the mitochondria–ER contact: a matter of thickness

(2016) M Giacomello et al.   CELL DEATH AND DIFFERENTIATION

Mitochondria-associated ER membranes and Alzheimer disease

(2016) Estela Area-Gomez et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

(2016) Federica Rizzo et al.   HUMAN MOLECULAR GENETICS

ER–Mitochondria contact sites: A new regulator of cellular calcium flux comes into play

(2016) Michiel Krols et al.   JOURNAL OF CELL BIOLOGY

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients

(2016) Yongzhi Xie et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations

(2016) Philippe Codron et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Redox Nanodomains Are Induced by and Control Calcium Signaling at the ER-Mitochondrial Interface

(2016) David M. Booth et al.   MOLECULAR CELL

Correcting mitochondrial fusion by manipulating mitofusin conformations

(2016) Antonietta Franco et al.   NATURE

Critical reappraisal confirms that Mitofusin 2 is an endoplasmic reticulum–mitochondria tether

(2016) Deborah Naon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ER-mitochondria contacts couple mtDNA synthesis with mitochondrial division in human cells

(2016) Samantha C. Lewis et al.   SCIENCE

Mitochondria-associated endoplasmic reticulum membranes allow adaptation of mitochondrial metabolism to glucose availability in the liver

(2016) Pierre Theurey et al.   Journal of Molecular Cell Biology

Mitochondrial Fission and Fusion Factors Reciprocally Orchestrate Mitophagic Culling in Mouse Hearts and Cultured Fibroblasts

(2015) Moshi Song et al.   Cell Metabolism

Homozygous mutations inMFN2cause multiple symmetric lipomatosis associated with neuropathy

(2015) Sarah L. Sawyer et al.   HUMAN MOLECULAR GENETICS

Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels

(2015) Arnaud Mourier et al.   JOURNAL OF CELL BIOLOGY

Acute optic neuropathy associated with a novel MFN2 mutation

(2015) Luca Leonardi et al.   JOURNAL OF NEUROLOGY

Mitofusin 2 Deficiency Affects Energy Metabolism and Mitochondrial Biogenesis in MEF Cells

(2015) Maria Kawalec et al.   PLoS One

The Mitochondrial Calcium Uniporter Matches Energetic Supply with Cardiac Workload during Stress and Modulates Permeability Transition

(2015) Timothy S. Luongo et al.   Cell Reports

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

(2015) Claudia Gonzaga-Jauregui et al.   Cell Reports

A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division

(2015) Uri Manor et al.   eLife

Original article Mitofusin 2 expression dominates over mitofusin 1 exclusively in mouse dorsal root ganglia – a possible explanation for peripheral nervous system involvement in Charcot-Marie-Tooth 2A

(2015) Maria Kawalec et al.   FOLIA NEUROPATHOLOGICA

A Role for Myosin II in Mammalian Mitochondrial Fission

(2014) Farida Korobova et al.   CURRENT BIOLOGY

Mitophagy of damaged mitochondria occurs locally in distal neuronal axons and requires PINK1 and Parkin

(2014) Ghazaleh Ashrafi et al.   JOURNAL OF CELL BIOLOGY

Novel roles for actin in mitochondrial fission

(2014) A. L. Hatch et al.   JOURNAL OF CELL SCIENCE

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model

(2014) Alleene V. Strickland et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Making connections: interorganelle contacts orchestrate mitochondrial behavior

(2014) Till Klecker et al.   TRENDS IN CELL BIOLOGY

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

(2014) Hector Sandoval et al.   eLife

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

Silencing of the Charcot–Marie–Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry

(2013) David Pla-Martín et al.   NEUROBIOLOGY OF DISEASE

Sigma-1 Receptor Chaperone at the ER-Mitochondrion Interface Mediates the Mitochondrion-ER-Nucleus Signaling for Cellular Survival

(2013) Tomohisa Mori et al.   PLoS One

An Actin-Dependent Step in Mitochondrial Fission Mediated by the ER-Associated Formin INF2

(2013) F. Korobova et al.   SCIENCE

PINK1-Phosphorylated Mitofusin 2 Is a Parkin Receptor for Culling Damaged Mitochondria

(2013) Y. Chen et al.   SCIENCE

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion

(2012) Stefan Vielhaber et al.   ACTA NEUROPATHOLOGICA

Formation and function of phosphatidylserine and phosphatidylethanolamine in mammalian cells

(2012) Jean E. Vance et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

MFN2, a new gene responsible for mitochondrial DNA depletion

(2012) Florence Renaldo et al.   BRAIN

MFN2 mutations cause compensatory mitochondrial DNA proliferation

(2012) Kamil S. Sitarz et al.   BRAIN

Upregulated function of mitochondria-associated ER membranes in Alzheimer disease

(2012) Estela Area-Gomez et al.   EMBO JOURNAL

The axonal transport of mitochondria

(2012) W. M. Saxton et al.   JOURNAL OF CELL SCIENCE

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

(2011) C. Rouzier et al.   BRAIN

VDAC1 selectively transfers apoptotic Ca2+ signals to mitochondria

(2011) D De Stefani et al.   CELL DEATH AND DIFFERENTIATION

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

(2011) Donald S. McCorquodale et al.   JOURNAL OF NEUROLOGY

During autophagy mitochondria elongate, are spared from degradation and sustain cell viability

(2011) Ligia C. Gomes et al.   NATURE CELL BIOLOGY

MFN2 mutations cause severe phenotypes in most patients with CMT2A

(2011) S. M. E. Feely et al.   NEUROLOGY

Tubular network formation protects mitochondria from autophagosomal degradation during nutrient starvation

(2011) A. S. Rambold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial matrix Ca2+ as an intrinsic signal regulating mitochondrial motility in axons

(2011) K. T. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ER Tubules Mark Sites of Mitochondrial Division

(2011) J. R. Friedman et al.   SCIENCE

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

(2010) Hsiuchen Chen et al.   CELL

Mitofusin 2 Is Necessary for Transport of Axonal Mitochondria and Interacts with the Miro/Milton Complex

(2010) A. Misko et al.   JOURNAL OF NEUROSCIENCE

Imaging Interorganelle Contacts and Local Calcium Dynamics at the ER-Mitochondrial Interface

(2010) György Csordás et al.   MOLECULAR CELL

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

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

PML Regulates Apoptosis at Endoplasmic Reticulum by Modulating Calcium Release

(2010) C. Giorgi et al.   SCIENCE

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

(2009) Judith Calvo et al.   ARCHIVES OF NEUROLOGY

The Mechanism of Ca2+-Dependent Regulation of Kinesin-Mediated Mitochondrial Motility

(2009) Xinnan Wang et al.   CELL

Mitochondrial ‘kiss-and-run’: interplay between mitochondrial motility and fusion–fission dynamics

(2009) Xingguo Liu et al.   EMBO JOURNAL

Isolation of mitochondria-associated membranes and mitochondria from animal tissues and cells

(2009) Mariusz R Wieckowski et al.   Nature Protocols

A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs

(2009) S. Ajroud-Driss et al.   NEUROGENETICS

An ER-Mitochondria Tethering Complex Revealed by a Synthetic Biology Screen

(2009) Benoît Kornmann et al.   SCIENCE

Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

(2008) Elizabeth A. Amiott et al.   EXPERIMENTAL NEUROLOGY

Histopathological Findings in Hereditary Motor and Sensory Neuropathy of Axonal Type With Onset in Early Childhood Associated WithMitofusin 2Mutations

(2008) Jean-Michel Vallat et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Modeling mitochondrial dynamics during in vivo axonal elongation

(2008) Matthew O’Toole et al.   JOURNAL OF THEORETICAL BIOLOGY

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE

Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations

(2008) G. A. Nicholson et al.   NEUROLOGY

Mitofusin 2: A Mitochondria-Shaping Protein with Signaling Roles Beyond Fusion

(2007) Olga Martins de Brito et al.   ANTIOXIDANTS & REDOX SIGNALING

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

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