Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family [PDF]
, 2018 Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is ...
Bras, J +3 more
core +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
Maternal nutritional status, C1 metabolism and offspring DNA methylation: a review of current evidence in human subjects. [PDF]
, 2011 : Evidence is growing for the long-term effects of environmental factors during early-life on later disease susceptibility. It is believed that epigenetic mechanisms (changes in gene function not mediated by DNA sequence alteration), particularly DNA ...
Cox, SE +4 more
core +4 more sources
A differential genome-wide transcriptome analysis : impact of cellular copper on complex biological processes like aging and development [PDF]
, 2012 The regulation of cellular copper homeostasis is crucial in biology. Impairments lead to severe dysfunctions and are known to affect aging and development.
Grimm, Carolin +3 more
core +8 more sources
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]
, 2017 open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.
core +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
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
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment [PDF]
, 2010 We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild
Alida E. M. Stroomer +25 more
core +3 more sources
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
Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby [PDF]
, 2012 Carnitine (β-hydroxy-γ-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in
Hyun-Seok Cho +3 more
core +1 more source