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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Detalles Bibliográficos
Autores principales: Atamena, Djamaa, Gurram, Venu, Petsophonsakul, Petnoï, Khosrobakhsh, Farnoosh, Arrázola, Macarena S., Botella, Marlène, Wissinger, Bernd, Szelechowski, Marion, Belenguer, Pascale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510408/
https://www.ncbi.nlm.nih.gov/pubmed/37736113
http://dx.doi.org/10.3389/fnmol.2023.1241222

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10510408/
https://www.ncbi.nlm.nih.gov/pubmed/37736113
http://dx.doi.org/10.3389/fnmol.2023.1241222

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