Cell Reports, 2021 Summary: Ablation of Slc22a14 causes male infertility in mice, but the underlying mechanisms remain unknown. Here, we show that SLC22A14 is a riboflavin transporter localized at the inner mitochondrial membrane of the spermatozoa mid-piece and show by ...
Wenhua Kuang +20 more
doaj +1 more source
Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis [PDF]
Molecular and Cellular Biochemistry, 2017 Deficiency or defective transport of riboflavin (RF) is known to cause neurological disorders, cataract, cardiovascular anomalies, and various cancers by altering the biochemical pathways. Mechanisms and regulation of RF uptake process is well characterized in the cells of intestine, liver, kidney, and brain origin, while very little is known in the ...
Tamilarasan Udhayabanu +6 more
openaire +3 more sources
Enhanced mitochondrial activity reshapes a gut microbiota profile that delays NASH progression
Hepatology, EarlyView., 2022 Improved mitochondrial activity, due to the lack of methylation‐controlled J protein (MCJ), creates a specific microbiota signature that when transferred through cecal microbiota transplantation delays NASH progression by restoring the gut‐liver axis and enhancing hepatic fatty acid oxidation.
María Juárez‐Fernández +18 more
wiley +1 more source
A juvenile ALS‐like phenotype dramatically improved after high‐dose riboflavin treatment
Annals of Clinical and Translational Neurology, 2020 Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood‐onset motor neuron disease (MND) with hearing loss, formerly described as Brown‐Vialetto‐Van‐Lear syndrome.
Christophe Carreau +10 more
doaj +1 more source
Molecular Mechanisms Mediating the Adaptive Regulation of Intestinal Riboflavin Uptake Process. [PDF]
PLoS ONE, 2015 The intestinal absorption process of vitamin B2 (riboflavin, RF) is carrier-mediated, and all three known human RF transporters, i.e., hRFVT-1, -2, and -3 (products of the SLC52A1, 2 & 3 genes, respectively) are expressed in the gut.
Veedamali S Subramanian +4 more
doaj +1 more source
Causes and Clinical Sequelae of Riboflavin Deficiency [PDF]
, 2023 Riboflavin, in its cofactor forms flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN), plays fundamental roles in energy metabolism, cellular antioxidant potential, and metabolic interactions with other micronutrients, including iron ...
Pentieva, Kristina +5 more
core +1 more source
SLC52A3-Related Riboflavin Transporter Deficiency in Two Saudi Siblings: A Case Report. [PDF]
CureusBusaleh F +10 more
europepmc +2 more sources
FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening
Molecular Genetics & Genomic Medicine, 2019 Background Multiple acyl‐CoA dehydrogenase deficiency (MADD), also known as glutaric aciduria type II, is a mitochondrial fatty acid oxidation disorder caused by variants in ETFA, ETFB, and ETFDH.
Kai Muru +8 more
doaj +1 more source
JIMD Reports, 2022 In this report, we describe the case of an 11‐year‐old boy, who came to our attention for myalgia and muscle weakness, associated with inappetence and vomiting. Hypertransaminasemia was also noted, with ultrasound evidence of hepatomegaly.
Albina Tummolo +10 more
doaj +1 more source
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice? [PDF]
Parkinsonism & Related Disorders, 2019 Contains fulltext : 206709.pdf (Publisher’s version ) (Open Access)
Sorina Gorcenco +11 more
openaire +2 more sources