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
The Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease.
Zanfardino P et al.
Biomolecules, 2025
Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.
Cavalcanti EBU et al.
Arquivos De Neuro-psiquiatria, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Genotype and Phenotype Features in a Large Chinese MFN2 Mutation Cohort.
Ma Y et al.
Frontiers in Neurology, 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
Structure, function, and regulation of mitofusin-2 in health and disease.
Chandhok G et al.
Biological Reviews of the Cambridge Philosophical Society, 2018
MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G et al.
Journal of the Neurological Sciences, 2015
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.
Rouzier C et al.
Brain : a Journal of Neurology, 2012
Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila.
Eschenbacher WH et al.
Plos One, 2012
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
Phenotypic spectrum of MFN2 mutations in the Spanish population.
Casasnovas C et al.
Journal of Medical Genetics, 2010
Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.
Guillet V et al.
Neurogenetics, 2010
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.
Banchs I et al.
Neuromuscular Disorders : Nmd, 2008
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.
Loiseau D et al.
Annals of Neurology, 2007