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    • Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression 

      Rocha, Nuno Miguel; Bulger, DA; Frontini, A; Titheradge, H; Gribsholt, SB; Knox, R; Page, M et al. (eLife Sciences Publications Ltd, 2017-04-17)
      MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however ...