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
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
An integrative analysis of genotype-phenotype correlation in Charcot Marie Tooth type 2A disease with MFN2 variants: A case and systematic review.
Zhang Y et al.
Gene, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
Vogt B et al.
Journal of Neurology, 2020
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Larrea D et al.
Human Molecular Genetics, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
Dankwa L et al.
Journal of the Peripheral Nervous System : Jpns, 2018
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
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C et al.
Cell Reports, 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
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
Brožková DŠ et al.
Molecular Medicine Reports, 2013
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
Eschenbacher WH et al.
Plos One, 2012
MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM et al.
Neurology, 2011
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
Mitochondrial fragmentation in neurodegeneration.
Knott AB et al.
Nature Reviews. Neuroscience, 2008
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
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
Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering.
Makio T et al.
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