Results 61 to 70 of about 917,291 (368)

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

Oxidative Medicine and Cellular Longevity, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by progressive pontobulbar palsy, sensory and motor neuron degeneration, sensorineural hearing loss, and optic atrophy.
Fiorella Colasuonno, A. Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, K. Massey, M. Tartaglia, E. Bertini, C. Compagnucci, S. Moreno   +9 more
semanticscholar   +1 more source

Study Protocol: Randomised controlled trial to investigate the functional significance of marginal riboflavin status in young women in the UK (RIBOFEM)

BMC Public Health, 2009
Background The functional significance of moderate riboflavin deficiency as it is currently assessed is not well understood. Animal and human studies have suggested a role for riboflavin in the absorption and mobilisation of iron and as such may be ...
Williams Elizabeth A, Mushtaq Sohail, Hill Marilyn HE, Dainty Jack R, Powers Hilary J   +4 more
doaj   +1 more source

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

Antioxidants, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration.
Fiorella Colasuonno, E. Bertini, M. Tartaglia, C. Compagnucci, S. Moreno   +4 more
semanticscholar   +1 more source

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, Camargos, S, Guerreiro, R, Mageste, LS   +3 more
core   +1 more source

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

Molecular Genetics and Metabolism Reports, 2022
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism disorders have recently been ...
Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto, Yuki Hasegawa, Seiji Yamaguchi, Takeshi Taketani   +7 more
doaj  

Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer : a case-control study in a population with relatively low folate intake [PDF]

, 2007
Peer reviewedPublisher ...
Andreassi, Boreham, Breslow, Chen, Erens, Finch, Guenther, Holland, Hosmer, Jim Cassidy, Julian Little, Kawakami, Keku, Khlat, Kim, Linda Sharp, Lindsey F. Masson, Ma, Ma, Narayanan, Neva E. Haites, Nigel T. Brockton, Parkin, Rozen, Seonaidh C. Cotton, Slattery, White   +26 more
core   +1 more source

Riboflavin transporter deficiency

Definitions, 2020
Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neurologic condition characterized by progressive peripheral and cranial neuronopathy that causes ...
MD Elisa Cali, BSc MSc Natalia Dominik, BSc Andreea Manole, MD PhD Henry Houlden   +3 more
semanticscholar   +1 more source

Deep Supramolecular Language Processing for Co‐Crystal Prediction

Angewandte Chemie, EarlyView.
DeepCocrystal is a deep learning model that predicts co‐crystal formation by learning supramolecular interactions from molecular string representations. It achieves high accuracy, estimates uncertainty, and offers interpretable insights into its predictions. Validated prospectively, DeepCocrystal discovered novel diflunisal co‐crystals and is available
Rebecca Birolo, Rıza Özçelik, Andrea Aramini, Roberto Gobetto, Michele R. Chierotti, Francesca Grisoni   +5 more
wiley   +2 more sources

Mild riboflavin deficiency is highly prevalent in school-age children but does not increase risk for anaemia in Côte d'Ivoire [PDF]

, 2017
There are few data on the prevalence of riboflavin deficiency in sub-Saharan Africa, and it remains unclear whether riboflavin status influences the risk for anaemia.
Hurrell, Richard F., Rohner, Fabian, Tschannen, Andreas B., Wegmueller, Rita, Zimmermann, Michael B.   +4 more
core  

Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency. [PDF]

PLoS ONE, 2010
BACKGROUND: Friedreich ataxia is a neurodegenerative disease caused by the lack of frataxin, a mitochondrial protein. We previously demonstrated that frataxin interacts with complex II subunits of the electronic transport chain (ETC) and putative ...
Pilar Gonzalez-Cabo, Sheila Ros, Francesc Palau   +2 more
doaj   +1 more source