Recent advances in riboflavin transporter RFVT and its genetic disease

C Jin, A Yonezawa - Pharmacology & Therapeutics, 2022 - Elsevier
Riboflavin (vitamin B2) is essential for cellular growth and function. It is enzymatically
converted to flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), which …

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience

B Jaeger, AM Bosch - Journal of inherited metabolic disease, 2016 - Springer
Introduction Riboflavin (vitamin B2) is absorbed in the small intestine by the human
riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is …

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

B O'Callaghan, AM Bosch… - Journal of Inherited …, 2019 - Wiley Online Library
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses
the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of …

Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in E. coli

L Console, M Tolomeo, M Colella, M Barile… - International Journal of …, 2019 - mdpi.com
Background: the SLC52A2 gene encodes for the riboflavin transporter 2 (RFVT2). This
transporter is ubiquitously expressed. It mediates the transport of Riboflavin across cell …

Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52

A Yonezawa, K Inui - Molecular aspects of medicine, 2013 - Elsevier
Riboflavin, a water-soluble vitamin also known as vitamin B2, is essential for normal cellular
functions. Riboflavin transporters play important roles in its homeostasis. Recently, three …

Disorders of riboflavin metabolism

C Vianey-Saban, C Acquaviva, AM Bosch - Physician's Guide to the …, 2022 - Springer
Riboflavin or vitamin B2, a water-soluble vitamin supplied by dairy products, is the precursor
of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD). FAD is the essential …

Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology

VS Subramanian, R Kapadia, A Ghosal, HM Said - Nutrition & metabolism, 2015 - Springer
Background Riboflavin (RF) is essential for normal cellular metabolic activities. Human cells
obtain RF from their surroundings via a carrier-mediated process that involves RF …

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

L Console, M Tolomeo, J Cosco, K Massey… - IUBMB …, 2022 - Wiley Online Library
Abstract Riboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by
mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human …

Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2)

SM Nabokina, VS Subramanian, HM Said - Molecular genetics and …, 2012 - Elsevier
The Brown–Vialetto–Van Laere syndrome (BVVLS) is a rare neurological disease
characterized by ponto-bulbar palsy, bilateral sensorineural deafness, and respiratory …

[HTML][HTML] A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene

ES Tranel, B McGowan, A Drackley, LG Epstein… - Molecular Genetics and …, 2024 - Elsevier
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from
infancy to adulthood with a progressive axonal neuropathy characterized by a variety of …