Associated Papers
Structure and transport mechanism of human riboflavin transporters.
Wang K et al.
Nature Communications, 2025
In silico investigation on structure-function relationship of members belonging to the human SLC52 transporter family.
Ben Mariem O et al.
Proteins, 2023
Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2.
Console L et al.
Iubmb Life, 2022
First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.
Zhao S et al.
Frontiers in Genetics, 2022
A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
Shi K et al.
Bmc Medical Genetics, 2019
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Manole A et al.
Brain : a Journal of Neurology, 2017
29053833 (PubMed )
Supplement: manole_et_al_si_300817this_3008_awx231.pdf
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
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