Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively. The resulting impaired mitochondrial metabolism leads to se...

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Veröffentlicht in:	Human molecular genetics 2024-12
Hauptverfasser:	Choueiri, Catherine M, Lau, Jarred, O'Connor, Emily, DiBattista, Alicia, Wong, Brittany Y, Spendiff, Sally, Horvath, Rita, Pena, Izabella, MacKenzie, Alexander, Lochmüller, Hanns
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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