MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

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

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Authors

Larrea, Delfina

Pera, Marta

Gonnelli, Adriano

Quintana-Cabrera, Rubén

Akman, H Orhan

Guardia-Laguarta, Cristina

Velasco, Kevin R

Publication Date

2019-06

Journal Title

Human molecular genetics

ISSN

0964-6906

Volume

Issue

Pages

1782-1800

Language

eng

Type

Article

This Version

VoR

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Citation

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

Rights

Attribution 4.0 International

Licence URL: https://creativecommons.org/licenses/by/4.0/

Except where otherwise noted, this item's licence is described as Attribution 4.0 International