Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

Dominant optic atrophy (DOA) is mainly caused by OPA1 mutations and is characterized by the degeneration of retinal ganglion cells (RGCs), whose axons form the optic nerve. The penetrance of DOA is incomplete and the disease is marked by highly variable expressivity, ranging from asymptomatic patien...

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Bibliographic Details
Main Authors: Djamaa Atamena, Venu Gurram, Petnoï Petsophonsakul, Farnoosh Khosrobakhsh, Macarena S. Arrázola, Marlène Botella, Bernd Wissinger, Marion Szelechowski, Pascale Belenguer
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Molecular Neuroscience
Subjects:
optic atrophy
OPA1
mitochondria
genetic modifiers
disease severity
mouse strains
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1241222/full

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