Article
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
Human molecular genetics - 1 Jun 2019
Larrea Delfina, Pera Marta, Gonnelli Adriano, Quintana-Cabrera Rubén, Akman H Orhan, Guardia-Laguarta Cristina, Velasco Kevin R, Area-Gomez Estela, Dal Bello Federica, De Stefani Diego, Horvath Rita, Shy Michael E, Schon Eric A, Giacomello Marta
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no understanding of the relationship of clinical phenotype to genotype. MFN2 has two functions: it promotes inter-mitochondrial fusion and mediates endoplasmic reticulum (ER)-mitochondrial tethering...
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