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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Bibliografische Detailangaben

Hauptverfasser:	Riccardo Montioli, Giada Sgaravizzi, Maria Andrea Desbats, Silvia Grottelli, Carla Borri Voltattorni, Leonardo Salviati, Barbara Cellini
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Frontiers Media S.A. 2021-07-01
Schriftenreihe:	Frontiers in Molecular Biosciences
Schlagworte:	gyrate atrophy pyridoxal phosphate ornithine aminotransferase pathogenic variant vitamin B6
Online-Zugang:	https://www.frontiersin.org/articles/10.3389/fmolb.2021.695205/full
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