Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

Abstract Inherited optic neuropathies are the most common mitochondrial diseases, leading to neurodegeneration involving the irreversible loss of retinal ganglion cells, optic nerve degeneration and central visual loss. Importantly, properly regulated mitochondrial dynamics are critical for maintain...

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Bibliographic Details
Main Authors: Majida Charif, Yvette C. Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaid, Vincent Procaccio, Dominique Bonneau, Patrizia Amati-Bonneau, Pascal Reynier, Dimitri Krainc, Guy Lenaers
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Molecular Neurodegeneration
Subjects:
Mitochondria dynamics
Mitochondrial disease
MIEF1
Mid51
Dominant optic atrophy (DOA)
Inherited optic neuropathy (ION)
Online Access:https://doi.org/10.1186/s13024-021-00431-w

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