Associated Papers
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2.
Tolomeo M et al.
Archives of Biochemistry and Biophysics, 2026
Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children.
Chen Z et al.
Frontiers in Pediatrics, 2026
Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
Marioli C et al.
Cell Death Discovery, 2024
A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report.
Cheng J et al.
Frontiers in Pediatrics, 2024
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
Magliocca V et al.
Frontiers in Cellular Neuroscience, 2024
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