Associated Papers
E4 ubiquitin ligase promotes mitofusin turnover and mitochondrial stress response.
Anton V et al.
Molecular Cell, 2023
37595558 (PubMed )
Supplement: mmc1.pdf
Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.
Hikiami R et al.
Journal of Human Genetics, 2018
Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.
Rocha N et al.
Elife, 2017
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Sawyer SL et al.
Human Molecular Genetics, 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
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
An unusual splice defect in the mitofusin 2 gene (MFN2) is associated with degenerative axonopathy in Tyrolean Grey cattle.
Drögemüller C et al.
Plos One, 2011
21526202 (PubMed )
Supplement: pone.0018931.s006.xlsx › Polymorphisms
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