MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.
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Authors
Larrea, Delfina
Gonnelli, Adriano
Akman, H Orhan
Guardia-Laguarta, Cristina
Velasco, Kevin R
Area-Gomez, Estela
Dal Bello, Federica
Shy, Michael E
Schon, Eric A
Giacomello, Marta
Publication Date
2019-06Journal Title
Human molecular genetics
ISSN
0964-6906
Volume
28
Issue
11
Pages
1782-1800
Language
eng
Type
Article
This Version
VoR
Physical Medium
Print
Metadata
Show full item recordCitation
Larrea, D., Pera, M., Gonnelli, A., Quintana-Cabrera, R., Akman, H. O., Guardia-Laguarta, C., Velasco, K. R., et al. (2019). MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.. Human molecular genetics, 28 (11), 1782-1800. https://doi.org/10.1093/hmg/ddz008
Keywords
Endoplasmic Reticulum, Mitochondria, Fibroblasts, Humans, Charcot-Marie-Tooth Disease, GTP Phosphohydrolases, Mitochondrial Proteins, Severity of Illness Index, Energy Metabolism, Oxidative Phosphorylation, Genotype, Mutation, Adult, Middle Aged, Female, Male, Mitochondrial Membranes, Mitochondrial Dynamics
Sponsorship
Wellcome Trust (109915_A_15_Z)
MRC (MR/N025431/2)
Identifiers
External DOI: https://doi.org/10.1093/hmg/ddz008
This record's URL: https://www.repository.cam.ac.uk/handle/1810/294168