Associated Papers
Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy.
Mei C et al.
Frontiers in Cellular Neuroscience, 2025
Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
Marioli C et al.
Cell Death Discovery, 2024
Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes.
Magliocca V et al.
Frontiers in Cellular Neuroscience, 2024
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
Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency.
Niceforo A et al.
Disease Models & Mechanisms, 2021
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
Marioli C et al.
International Journal of Molecular Sciences, 2020
Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.
Colasuonno F et al.
Oxidative Medicine and Cellular Longevity, 2020
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
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR et al.
Brain : a Journal of Neurology, 2014
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