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Structure and transport mechanism of human riboflavin transporters.
Wang K, Chen H, Cheng L, Zhao J, Huang B, Wu D, He X, Zhou Y, Yuan Y, Zhou F, Jiang J, Chen L, Jiang D. Wang K, et al. Nat Commun. 2025 May 1;16(1):4078. doi: 10.1038/s41467-025-59255-7. Nat Commun. 2025. PMID: 40307217 Free PMC article.
Here we describe the cryo-electron microscopy structures of human RFVT2 and RFVT3 in complex with riboflavin in outward-occluded and inward-open states, respectively. ...
Here we describe the cryo-electron microscopy structures of human RFVT2 and RFVT3 in complex with riboflavin in outward-occluded and …
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genes.
Gayathri S, Aravind MK, Gowda VK, Varalakshmi P, Chatterjee C, Matheshwaran S, Efthymiou S, Houlden H, Ashokkumar B. Gayathri S, et al. Brain Dev. 2025 Jun;47(3):104355. doi: 10.1016/j.braindev.2025.104355. Epub 2025 Mar 31. Brain Dev. 2025. PMID: 40168907
BACKGROUND: BVVLS (Brown-Vialetto-Van Laere syndrome), a rare genetic condition characterized by progressive neuropathy, is caused by defects in SLC52A2 and SLC52A3 genes coding for hRFVT-2 and hRFVT-3. METHODS: Five BVVLS cases were screened for disease-causing variants u …
BACKGROUND: BVVLS (Brown-Vialetto-Van Laere syndrome), a rare genetic condition characterized by progressive neuropathy, is caused by defect …
Identification and Physiological Analysis of Novel Riboflavin Transporter RFVT.
Yonezawa A. Yonezawa A. Biol Pharm Bull. 2025;48(7):951-956. doi: 10.1248/bpb.b25-00194. Biol Pharm Bull. 2025. PMID: 40603088 Free article. Review.
The discovery of the riboflavin transporter (RFVT) family, comprising RFVT1 (SLC52A1), RFVT2 (SLC52A2), and RFVT3 (SLC52A3) has provided critical insights into riboflavin homeostasis. These transporters show tissue-specific expression and play essential roles in rib …
The discovery of the riboflavin transporter (RFVT) family, comprising RFVT1 (SLC52A1), RFVT2 (SLC52A2), and RFVT3 (SLC52A3) ha …
Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.
Sabeghi D, InanlooRahatloo K, Mirzadeh HS, Khani M, Shamshiri H, Taghavi T, Alavi A, Boostani R, Tonekaboni SH, Akhondian J, Ebrahimi M, Salehi N, Nafissi S, Elahi E. Sabeghi D, et al. Acta Neurol Belg. 2024 Aug;124(4):1363-1370. doi: 10.1007/s13760-024-02598-7. Epub 2024 Jul 4. Acta Neurol Belg. 2024. PMID: 38965176
INTRODUCTION: Riboflavin Transporter Deficiency (RTD) is a rare neurological disorder characterized by pontobulbar palsy, hearing loss, and motor cranial nerve involvement. SLC52A3 and SLC52A2 mutations are causes of RTD. SLC52A2 mutations are usually found in child …
INTRODUCTION: Riboflavin Transporter Deficiency (RTD) is a rare neurological disorder characterized by pontobulbar palsy, hearing loss, and …
Riboflavin Deficiency Associated With Psoriasis: Insights From Population and Transcriptome.
Li A, Chen F, Xia Q, Liu B, Xu J, Song X, Xu T, Cui Y. Li A, et al. Exp Dermatol. 2025 May;34(5):e70106. doi: 10.1111/exd.70106. Exp Dermatol. 2025. PMID: 40312926
Transcriptome analysis of data series GSE41662 and GSE121212 demonstrated upregulation of riboflavin metabolising genes (SLC52A2, SLC52A3, RFK, FLAD1 and SLC25A32) in psoriatic lesional skin. In an in vitro psoriatic keratinocyte model, riboflavin reduction induced upregul …
Transcriptome analysis of data series GSE41662 and GSE121212 demonstrated upregulation of riboflavin metabolising genes (SLC52A2, SLC …
Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier.
Yee SW, Wang J, Giacomini KM. Yee SW, et al. Clin Pharmacol Ther. 2024 Dec;116(6):1513-1520. doi: 10.1002/cpt.3433. Epub 2024 Sep 5. Clin Pharmacol Ther. 2024. PMID: 39234898 Free PMC article. Review.
Mutations in transporters, such as SLC19A3 (thiamine), SLC52A2, and SLC52A3 (riboflavin), and SLC5A6 (multiple B vitamins including pantothenic acid and biotin) are linked to severe neurological disorders due to their role in the blood-brain barrier, which is crucial for b …
Mutations in transporters, such as SLC19A3 (thiamine), SLC52A2, and SLC52A3 (riboflavin), and SLC5A6 (multiple B vitamins including p …
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.
Choueiri CM, Lau J, O'Connor E, DiBattista A, Wong BY, Spendiff S, Horvath R, Pena I, MacKenzie A, Lochmüller H. Choueiri CM, et al. Hum Mol Genet. 2025 Feb 1;34(3):265-276. doi: 10.1093/hmg/ddae171. Hum Mol Genet. 2025. PMID: 39656631
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. ...
Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- a …
Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Tolomeo M, Chimienti G, Lanza M, Barbaro R, Nisco A, Latronico T, Leone P, Petrosillo G, Liuzzi GM, Ryder B, Inbar-Feigenberg M, Colella M, Lezza AMS, Olsen RKJ, Barile M. Tolomeo M, et al. Free Radic Res. 2022 Jul-Aug;56(7-8):511-525. doi: 10.1080/10715762.2022.2146501. Epub 2022 Dec 8. Free Radic Res. 2022. PMID: 36480241
We hypothesized that disturbed flavin homeostasis and Rf-responsiveness could be due to a secondary impairment in the expression of the Rf transporter 2 (RFVT2), encoded by SLC52A2, in the frame of an adaptive retrograde signaling to mitochondrial dysfunction. ...In …
We hypothesized that disturbed flavin homeostasis and Rf-responsiveness could be due to a secondary impairment in the expression of the Rf t …
Recent advances in riboflavin transporter RFVT and its genetic disease.
Jin C, Yonezawa A. Jin C, et al. Pharmacol Ther. 2022 May;233:108023. doi: 10.1016/j.pharmthera.2021.108023. Epub 2021 Oct 15. Pharmacol Ther. 2022. PMID: 34662687 Review.
RFVT3 has functional characteristics different from those of RFVT1 and RFVT2. RFVT3 contributes to absorption in the small intestine, reabsorption in the kidney, and transport to the fetus in the placenta, while RFVT2 mediates the tissue distribution of riboflavin f …
RFVT3 has functional characteristics different from those of RFVT1 and RFVT2. RFVT3 contributes to absorption in the small intestine, …
BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene.
Liu Z, Peng Q, Li J, Rao C, Lu X. Liu Z, et al. Clin Chim Acta. 2021 Dec;523:402-406. doi: 10.1016/j.cca.2021.10.031. Epub 2021 Oct 28. Clin Chim Acta. 2021. PMID: 34737166
RESULTS: The proband was found to be heterozygous for c.350T > C (p.L117P) in exon 3 and c.1135_1137delTGG (p.W379del) in exon 5 of SLC52A2 gene. His anemia and neurological symptoms improved significantly after treatment with low dose oral riboflavin. CONCLUSIONS: This …
RESULTS: The proband was found to be heterozygous for c.350T > C (p.L117P) in exon 3 and c.1135_1137delTGG (p.W379del) in exon 5 of SL …
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