MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives
G Stuppia, F Rizzo, G Riboldi, R Del Bo… - Journal of the …, 2015 - Elsevier
Abstract Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial
membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm
of chromosome 1. MFN2 protein is involved in several intracellular pathways, but is mainly
involved in a network that has an essential role in several mitochondrial functions, including
fusion, axonal transport, interorganellar communication and mitophagy. Mutations in the
gene encoding MFN2 are associated with Charcot–Marie–Tooth disease type 2A (CMT2A) …
membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm
of chromosome 1. MFN2 protein is involved in several intracellular pathways, but is mainly
involved in a network that has an essential role in several mitochondrial functions, including
fusion, axonal transport, interorganellar communication and mitophagy. Mutations in the
gene encoding MFN2 are associated with Charcot–Marie–Tooth disease type 2A (CMT2A) …