Associated Papers
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.
Kremitzki C et al.
Npj Imaging, 2025
A cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Barsa C et al.
Scientific Reports, 2025
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
Zhang Y et al.
International Journal of Biological Macromolecules, 2024
Charcot-Marie-Tooth type 2A in vivo models: Current updates.
Abati E et al.
Journal of Cellular and Molecular Medicine, 2024
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Babu K et al.
Ophthalmic Genetics, 2023
Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations.
Yenkin AL et al.
Communications Biology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mitochondrial Phenotypes in Genetically Diverse Neurodegenerative Diseases and Their Response to Mitofusin Activation.
Dang X et al.
Cells, 2022
MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant.
Das R et al.
Journal of Cell Science, 2022
Genetic Neuropathy Due to Impairments in Mitochondrial Dynamics.
Sharma G et al.
Biology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease.
Kitani-Morii F et al.
International Journal of Molecular Sciences, 2020
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Barbullushi K et al.
Molecular Neurobiology, 2019
Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.
Fichi G et al.
International Journal of Molecular Sciences, 2019
Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
Zhou Y et al.
The Journal of Clinical Investigation, 2019
Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
Lin HP et al.
Journal of Neuromuscular Diseases, 2019
Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy.
El Fissi N et al.
Embo Reports, 2018
Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria.
Bergamin G et al.
Biochimica Et Biophysica Acta, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
DiVincenzo C et al.
Molecular Genetics & Genomic Medicine, 2014
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
Eschenbacher WH et al.
Plos One, 2012
Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.
Misko A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.
Detmer SA et al.
The Journal of Cell Biology, 2007
Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.
Baloh RH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K et al.
Brain : a Journal of Neurology, 2006
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Engelfried K et al.
Bmc Medical Genetics, 2006
Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.
Kijima K et al.
Human Genetics, 2005
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner S et al.
Nature Genetics, 2004