Associated Papers
Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Rizzuti M et al.
Stem Cell Reports, 2025
Charcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Joaquim M et al.
Journal of Cell Science, 2025
Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.
Zanfardino P et al.
Human Molecular Genetics, 2023
Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.
Abati E et al.
Scientific Reports, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M et al.
Brain : a Journal of Neurology, 2020
33415332 (PubMed )
Supplement: awaa323_supplementary_data.zip › awaa323-suppl_data › brain-2020-01188-File006.pdf
Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax.
Samanas NB et al.
Life Science Alliance, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Barbullushi K et al.
Molecular Neurobiology, 2019
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Dankwa L et al.
Neuromuscular Disorders : Nmd, 2019
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Rizzo F et al.
Human Molecular Genetics, 2016
Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.
Bergamin G et al.
Neuromolecular Medicine, 2014
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS et al.
Brain : a Journal of Neurology, 2012
A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
Muglia M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2007
Select a paper to view details