Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina

The deficit of human ornithine aminotransferase (hOAT) is responsible for gyrate atrophy (GA), a rare recessive inherited disorder. Although more than 60 disease-associated mutations have been identified to date, the molecular mechanisms explaining how each mutation leads to the deficit of OAT are m...

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Detalles Bibliográficos
Autores principales: Montioli, Riccardo, Sgaravizzi, Giada, Desbats, Maria Andrea, Grottelli, Silvia, Voltattorni, Carla Borri, Salviati, Leonardo, Cellini, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Molecular Biosciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360850/
https://www.ncbi.nlm.nih.gov/pubmed/34395527
http://dx.doi.org/10.3389/fmolb.2021.695205

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8360850/
https://www.ncbi.nlm.nih.gov/pubmed/34395527
http://dx.doi.org/10.3389/fmolb.2021.695205

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