Results 31 to 40 of about 571,237 (168)

SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility

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, Jie Zhang, Zhou Lan, R.N.V. Krishna Deepak, Chao Liu, Zhilong Ma, Lili Cheng, Xinbin Zhao, Xianbin Meng, Weihua Wang, Xueying Wang, Lina Xu, Yupei Jiao, Qi Luo, Ziyi Meng, Kehkooi Kee, Xiaohui Liu, Haiteng Deng, Wei Li, Hao Fan, Ligong Chen   +20 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, Naroa Goikoetxea‐Usandizaga, David Porras, María Victoria García‐Mediavilla, Miren Bravo, Marina Serrano‐Maciá, Jorge Simón, Teresa C. Delgado, Sofía Lachiondo‐Ortega, Susana Martínez‐Flórez, Óscar Lorenzo, Mercedes Rincón, Marta Varela‐Rey, Leticia Abecia, Héctor Rodríguez, Juan Anguita, Esther Nistal, María Luz Martínez‐Chantar, Sonia Sánchez‐Campos   +18 more
wiley   +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, Sellamuthu Karthi, Ayyavu Mahesh, Perumal Varalakshmi, Andreea Manole, Henry Houlden, Balasubramaniem Ashokkumar   +6 more
openaire   +3 more sources

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, Timothée Lenglet, Isabelle Mosnier, Ghizlene Lahlou, Guillaume Fargeot, Nicolas Weiss, Sophie Demeret, François Salachas, Alice Veauville‐Merllié, Cécile Acquaviva, Yann Nadjar   +10 more
doaj   +1 more source

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S   +134 more
core   +2 more sources

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 ...
McNulty, Helene, Pentieva, Kristina, Helene McNulty, Mary Ward, Ward, Mary, Kristina Pentieva   +5 more
core   +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, Abhisek Ghosal, Rubina Kapadia, Svetlana M Nabokina, Hamid M Said   +4 more
doaj   +1 more source

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

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, Piero Leone, Maria Tolomeo, Rita Solito, Matteo Mattiuzzo, Francesca Romana Lepri, Tania Lorè, Roberta Cardinali, Donatella De Giovanni, Simonetta Simonetti, Maria Barile   +10 more
doaj   +1 more source

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, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K. J. Olsen, Katrin Õunap   +8 more
doaj   +1 more source

A general method for selection of riboflavin-overproducing food grade micro-organisms [PDF]

, 2006
peer-reviewedBackground: This study describes a strategy to select and isolate spontaneous riboflavin-overproducing strains of Lactobacillus (Lb.) plantarum, Leuconostoc (Lc.) mesenteroides and Propionibacterium (P.) freudenreichii.
van Sinderen, Douwe, Smid Eddy J, Eddy J Smid, Burgess, Catherine M., Smid, Eddy J., Douwe van Sinderen, Rutten, Ger, Catherine M Burgess, Ger Rutten, Smid, Eddy J, Burgess, Catherine, van Sinderen Douwe, Burgess Catherine M, Rutten Ger   +13 more
core   +1 more source