… Six of these mutations have been introduced in the recombinant protein for functional
characterization. The mutants W31S, S52F, S128L, L312P, C325G, and M423V have been …

… an overview of riboflavin metabolism, its role in mitochondrial function, primary and …
Identification and comparative functional characterization of a new human riboflavin transporter …

… SIGNIFICANCE STATEMENT Our results identified riboflavin as an endogenous biomarker
… that the expression and function of P-gp and organic cation transporter 2 (Oct2) in rats is sex …

… We present the electrodiagnostic findings in a case of a genetically confirmed riboflavin
transporter deficiency type 2. The electrodiagnostic findings have a unique pattern not found in …

… schistosome homolog of human riboflavin transporter 2 (RFVT2) was identified by BLAST
analysis. Using this to interrogate the available S. mansoni genome, we identified a full-length …

… Here, we present a detailed retinal structural and functional phenotype of 3 patients from
2 families with biallelic mutations in SLC52A2 as well as the impact of riboflavin …

… (1,2) These proteins, also known as SLC52 transporters, are the last members of the solute
carrier (SLC) transporter superfamily to be characterized. SLC transporters are secondary or …

… transporter proteins 2 and 3, encoded by SLC52A2 and … impair riboflavin transporter protein
function and riboflavin … and give rise to riboflavin transporter deficiency (RTD) in humans. …

… Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor,
sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused …

… transporters RFVT1, RFVT2, and RFVT3 have been identified and characterized since
2008. They are highly specific transporters of riboflavin. RFVT3 has functional characteristics …