Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies

M Mereis, RJA Wanders, M Schoonen… - The international journal …, 2021 - Elsevier
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II
(GAII), is a group of clinically heterogeneous disorders caused by mutations in electron …

Over-expression in Escherichia coli and characterization of two recombinant isoforms of human FAD synthetase

C Brizio, M Galluccio, R Wait, EM Torchetti… - Biochemical and …, 2006 - Elsevier
FAD synthetase (FADS)(EC 2.7. 7.2) is a key enzyme in the metabolic pathway that converts
riboflavin into the redox cofactor FAD. Two hypothetical human FADSs, which are the …

Identification and functional characterization of a novel human and rat riboflavin transporter, RFT1

A Yonezawa, S Masuda… - American Journal of …, 2008 - journals.physiology.org
Absorption of riboflavin is mediated by transporter (s). However, a mammalian riboflavin
transporter has yet to be identified. In the present study, the novel human and rat riboflavin …

Riboflavin deficiency—implications for general human health and inborn errors of metabolism

S Mosegaard, G Dipace, P Bross, J Carlsen… - International Journal of …, 2020 - mdpi.com
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …

Maternal riboflavin deficiency, resulting in transient neonatal‐onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

G Ho, A Yonezawa, S Masuda, K Inui, KG Sim… - Human …, 2011 - Wiley Online Library
Riboflavin, or vitamin B2, is a precursor to flavin adenine dinucleotide (FAD) and flavin
mononucleotide (FMN) molecules, required in biological oxidation‐reduction reactions. We …

Riboflavin responsive mitochondrial dysfunction in neurodegenerative diseases

T Udhayabanu, A Manole, M Rajeshwari… - Journal of clinical …, 2017 - mdpi.com
Mitochondria are the repository for various metabolites involved in diverse energy-
generating processes, like the TCA cycle, oxidative phosphorylation, and metabolism of …

Emerging roles for riboflavin in functional rescue of mitochondrial β-oxidation flavoenzymes

BJ Henriques, RK Olsen, P Bross… - Current medicinal …, 2010 - ingentaconnect.com
Riboflavin, commonly known as vitamin B2, is the precursor of flavin cofactors. It is present in
our typical diet, and inside the cells it is metabolized to FMN and FAD. As a result of their …

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

S Mosegaard, GH Bruun, KF Flyvbjerg… - Molecular Genetics and …, 2017 - Elsevier
Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox
reactions central to human metabolism, through its role as precursor for the cofactors flavin …

[HTML][HTML] Identification and comparative functional characterization of a new human riboflavin transporter hRFT3 expressed in the brain

Y Yao, A Yonezawa, H Yoshimatsu, S Masuda… - The Journal of …, 2010 - Elsevier
We isolated cDNA coding a new human riboflavin transporter (hRFT) 3, which exhibits 86.7
and 44.1% amino acid identity with hRFT1 and hRFT2, respectively. It was predicted to have …

Riboflavin

JT Pinto, J Zempleni - Advances in nutrition, 2016 - advances.nutrition.org
Riboflavin (vitamin B-2) was first isolated from milk whey in the late 1870s as the water-
soluble, yellowish pigment called lactochrome. By the 1930s, lactochrome was structurally …