4 Result(s)
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Teerapat Rojsajjakul
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Article
Open AccessExpression and processing of mature human frataxin after gene therapy in mice
Friedreich’s ataxia is a degenerative and progressive multisystem disorder caused by mutations in the highly conserved frataxin (FXN) gene that results in FXN protein deficiency and mitochondrial dysfunction. ...
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Article
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort
Friedreich ataxia is a progressive multisystem disorder caused by deficiency of the protein frataxin; a small mitochondrial protein involved in iron sulfur cluster synthesis. Two types of frataxin exist: FXN-M...
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Article
Open AccessQuantification of human mature frataxin protein expression in nonhuman primate hearts after gene therapy
Deficiency in human mature frataxin (hFXN-M) protein is responsible for the devastating neurodegenerative and cardiodegenerative disease of Friedreich’s ataxia (FRDA). It results primarily through epigenetic s...
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Article
Open AccessDNA methylation in Friedreich ataxia silences expression of frataxin isoform E
Epigenetic silencing in Friedreich ataxia (FRDA), induced by an expanded GAA triplet-repeat in intron 1 of the FXN gene, results in deficiency of the mitochondrial protein, frataxin. A lesser known extramitochond...
