TY  - GEN
AU  - Larrea,Delfina
AU  - Pera,Marta
AU  - Gonnelli,Adriano
AU  - Quintana-Cabrera,Rubén
AU  - Akman,H Orhan
AU  - Guardia-Laguarta,Cristina
AU  - Velasco,Kevin R
AU  - Area-Gomez,Estela
AU  - Dal Bello,Federica
AU  - De Stefani,Diego
AU  - Horvath,Rita
AU  - Shy,Michael E
AU  - Schon,Eric A
AU  - Giacomello,Marta
TI  - MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics
SN  - 1460-2083
PY  - 2020///0206
KW  - Adult
KW  - Charcot-Marie-Tooth Disease
KW  - genetics
KW  - Endoplasmic Reticulum
KW  - Energy Metabolism
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - GTP Phosphohydrolases
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Mitochondria
KW  - Mitochondrial Dynamics
KW  - Mitochondrial Membranes
KW  - Mitochondrial Proteins
KW  - Mutation
KW  - Oxidative Phosphorylation
KW  - Severity of Illness Index
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S
UR  - https://doi.org/10.1093/hmg/ddz008
ER  -