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 …
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 …
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 …
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
Background: the SLC52A2 gene encodes for the riboflavin transporter 2 (RFVT2). This
transporter is ubiquitously expressed. It mediates the transport of Riboflavin across cell …
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 …
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 …
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 …
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
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 …
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 …
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 …
infancy to adulthood with a progressive axonal neuropathy characterized by a variety of …