Results 21 to 30 of about 908,771 (315)

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells [PDF]

International Journal of Molecular Sciences, 2020
Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations in ...
Chiara Marioli, Valentina Magliocca, Stefania Petrini, Alessia Niceforo, Rossella Borghi, Sara Petrillo, Piergiorgio La Rosa, Fiorella Colasuonno, Tiziana Persichini, Fiorella Piemonte, Keith Massey, Marco Tartaglia, Sandra Moreno, Enrico Bertini, Claudia Compagnucci   +14 more
openalex   +2 more sources

Riboflavin deficiency induces a significant change in proteomic profiles in HepG2 cells. [PDF]

Sci Rep, 2017
Riboflavin deficiency is widespread in many regions over the world, especially in underdeveloped countries. In this study, we investigated the effects of riboflavin deficiency on protein expression profiles in HepG2 cells in order to provide molecular ...
Xin Z, Pu L, Gao W, Wang Y, Wei J, Shi T, Yao Z, Guo C.   +7 more
europepmc   +2 more sources

Causes and Clinical Sequelae of Riboflavin Deficiency.

Annual review of nutrition, 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 ...
H. McNulty, K. Pentieva, M. Ward
semanticscholar   +1 more source

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Journal of the peripheral nervous system, 2023
Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure.
Jack R Fennessy, Kayla M. D. Cornett, J. Burns, M. Menezes   +3 more
semanticscholar   +1 more source

Update on riboflavin and multiple sclerosis: a systematic review [PDF]

Iranian Journal of Basic Medical Sciences, 2017
Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system (CNS). Riboflavin plays an important role in myelin formation, and its deficiency is implicated as a risk factor for multiple sclerosis.
Mahshid Naghashpour, Sima Jafarirad, Reza Amani, Alireza Sarkaki, Ahmad Saedisomeolia   +4 more
doaj   +1 more source

Riboflavin Status in Pregnancy and Its Relationship with Blood Pressure, Heart Rate and Risk of Hypertension: Findings from the OptiPREG Observational Study

Proceedings, 2023
Clinical riboflavin deficiency is common in low- and middle-income countries, whilst sub-optimal riboflavin status may be much more prevalent globally than generally recognized, including in high-income countries.
Bethany Duffy, Helene McNulty, Mary Ward, Elina Psara, Emma O’Sullivan, Geraldine Horigan, Kristina Pentieva   +6 more
doaj   +1 more source

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

Journal of Inherited Metabolic Disease, 2019
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin ...
Benjamin O’Callaghan, Annet M. Bosch, Henry Houlden   +2 more
openalex   +2 more sources

Riboflavin Deficiency in Rats Decreases de novo Formate Production but Does Not Affect Plasma Formate Concentration. [PDF]

J Nutr, 2017
MacMillan L, Lamarre SG, daSilva RP, Jacobs RL, Brosnan ME, Brosnan JT.   +5 more
europepmc   +2 more sources

Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. [PDF]

Sci Rep, 2016
Homeostasis of riboflavin should be maintained by transporters. Previous in vitro studies have elucidated basic information about riboflavin transporter RFVT3 encoded by SLC52A3 gene.
Yoshimatsu H, Yonezawa A, Yamanishi K, Yao Y, Sugano K, Nakagawa S, Imai S, Omura T, Nakagawa T, Yano I, Masuda S, Inui K, Matsubara K.   +12 more
europepmc   +2 more sources

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? [PDF]

Orphanet Journal of Rare Diseases, 2018
BackgroundMitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic ...
Birgit Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnès Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An I. Jonckheere, Arnold Münnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Wenhong Ding, Eleonora Lamantea, Elsebet Østergaard, Ewa Pronicka, Germaine Pierre, Hubert J.M. Smeets, Ilka Wittig, Ingrid Scurr, I.F.M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda De Meırleır, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie‐Cécile Nassogne, Han L, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia B. Wortmann   +56 more
openalex   +2 more sources