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
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ et al.
Nature Communications, 2019
A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.
Dankwa L et al.
Neuromuscular Disorders : Nmd, 2019
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
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 severe phenotypes in most patients with CMT2A.
Feely SM et al.
Neurology, 2011
Mitochondrial dynamics in mammalian health and disease.
Liesa M et al.
Physiological Reviews, 2009
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
Amiott EA et al.
Experimental Neurology, 2008
Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).
Engelfried K et al.
Bmc Medical Genetics, 2006
Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.
Lawson VH et al.
Neurology, 2005
Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering.
Makio T et al.
Contact (thousand Oaks (ventura County, Calif.)), 0
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