Results 21 to 30 of about 17,684 (152)

C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement [PDF]

Genes and Diseases, 2023
Ramesh K. Narayanan, Gonzalo Perez-siles, Kamila A. Marzec, Alexandra Boyling, Brent Neumann, Manoj P. Menezes, Marina L. Kennerson   +6 more
doaj   +3 more sources

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience [PDF]

Journal of Inherited Metabolic Disease, 2016
IntroductionRiboflavin (vitamin B2) is absorbed in the small intestine by the human riboflavin transporters RFVT1 and RFVT3. A third riboflavin transporter (RFVT2) is expressed in the brain.
Bregje Jaeger, Annet M Bosch
exaly   +3 more sources

Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum

Genes, 2023
Riboflavin transporter 1 (RFVT1) deficiency is an ultrarare metabolic disorder due to autosomal dominant pathogenic variants in SLC52A1. The RFVT1 protein is mainly expressed in the placenta and intestine.
Sarah C Grunert, Athanasia Ziagaki, André Heinen   +2 more
exaly   +5 more sources

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

Int J Mol Sci, 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 ...
Marioli C, Magliocca V, Petrini S, Niceforo A, Borghi R, Petrillo S, La Rosa P, Colasuonno F, Persichini T, Piemonte F, Massey K, Tartaglia M, Moreno S, Bertini E, Compagnucci C.   +14 more
europepmc   +2 more sources

Riboflavin transporter deficiency [PDF]

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 Henry Houlden   +3 more
semanticscholar   +2 more sources

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   +3 more sources

Riboflavin in neurological diseases: therapeutic advances, metabolic insights, and emerging genetic strategies [PDF]

Frontiers in Neurology
BackgroundRiboflavin (vitamin B2), a precursor of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD), is essential for mitochondrial function, redox balance, and neuronal viability.
Zhiming Tao, Zhiming Tao, Zhiming Tao, Jinglu Huo, Jinglu Huo, Jinglu Huo, Xiaosheng Hao, Xiaosheng Hao, Xiaosheng Hao, Jianmin Liang, Jianmin Liang, Jianmin Liang   +11 more
doaj   +2 more sources

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children [PDF]

Frontiers in Pediatrics
ObjectiveTo report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to ...
Zhenzhen Chen, Landi Lai, Xiaomei Lu, Xiaomei Lu, Xiaomei Lu, Bomao Zhong, Bomao Zhong, Bomao Zhong, Qi Peng, Qi Peng, Qi Peng, Ziqiang Liu   +11 more
doaj   +2 more sources

The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

Journal of Child Neurology, 2019
Purpose: To identify symptoms and health care interactions with patients with riboflavin transporter deficiency (RTD) type 2 prior to diagnosis. Methods: Parents of children with riboflavin transporter deficiency type 2 (n = 10) were interviewed to ...
Fatima Amir, Carrie L Atzinger, K. Massey, J. Greinwald, L. Hunter, E. Ulm, Margaret Kettler   +6 more
semanticscholar   +4 more sources

Riboflavin Transporter 1 Deficiency Caused by a Homozygous Single Exonal Deletion of [PDF]

Annals of Child Neurology, 2020
Urim Kang, Da Hae Yang, Sang Ook Nam, Yun-jin Lee, Gyu Min Yeon   +4 more
doaj   +4 more sources