Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Paola BorgiaSimona BaldassariNicoletta PedemonteEbba AlkhunaiziGianluca D'OnofrioDomenico TortoraElisa CalìPaolo ScudieriGanna BalaguraIlaria MusanteMaria Cristina DianaMarina PedemonteMaria Stella VariMichele IacominoAntonella RivaRoberto ChimenzGiuseppe D ManganoMohammad Hasan MohammadiMehran Beiraghi ToosiFarah AshrafzadehShima ImannezhadEhsan Ghayoor KarimianiAndrea AccogliMaria Cristina SchiaffinoMohamad MaghnieMiguel Angel SolerKarl EchiverriCharles K AbramsPasquale StrianoSara FortunaReza MaroofianHenry HouldenFederico ZaraChiara FiorilloVincenzo SalpietroPublished in: Orphanet journal of rare diseases (2022)
This study expands the phenotypic and mutational spectrum of PEX13-related ZSDs and also highlight a variety of disease mechanisms contributing to PEX13-related clinical phenotypes, including the emerging contribution of secondary mitochondrial dysfunction to the pathophysiology of ZSDs.
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