Results 21 to 30 of about 6,824 (185)

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 SLC52A2 and SLC52A3, encoding riboflavin (RF) transporters (RFVT2 and RFVT3, respectively), resulting ...
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   +4 more sources

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

Journal of Inherited Metabolic Disease, 2019
Abstract 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
Benjamin O'Callaghan, Annet M. Bosch, Henry Houlden   +2 more
openaire   +5 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

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. To our knowledge, only five cases of RFVT1 deficiency from three families have been reported so far.
Sarah C. Grünert, Athanasia Ziagaki, André Heinen, Anke Schumann, Sara Tucci, Ute Spiekerkoetter, Miriam Schmidts   +6 more
openaire   +5 more sources

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

Genes and Diseases
Ramesh K. Narayanan, Gonzalo Perez-siles, Kamila A. Marzec, Alexandra Boyling, Brent Neumann, Manoj P. Menezes, Marina L. Kennerson   +6 more
doaj   +2 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

Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

The Turkish Journal of Pediatrics, 2021
Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes. Case.
Berna Şeker Yılmaz, Serdar Ceylaner, Neslihan Önenli Mungan   +2 more
doaj   +1 more source

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

J Inherit Metab Dis, 2016
Jaeger B, Bosch AM.
europepmc   +2 more sources

Riboflavin: The Health Benefits of a Forgotten Natural Vitamin [PDF]

, 2020
Riboflavin (RF) is a water-soluble member of the B-vitamin family. Sufficient dietary and supplemental RF intake appears to have a protective effect on various medical conditions such as sepsis, ischemia etc., while it also contributes to the reduction ...
Bäumler, Hans, Georgieva, Radostina, Kao, Ijad, Pruß, Axel, Suwannasom, Nittiya   +4 more
core   +1 more source

Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2

IUBMB Life, 2021
AbstractRiboflavin transporter deficiency 2 (RTD2) is a rare neurological disorder caused by mutations in the Solute carrier family 52 member 2 (Slc52a2) gene encoding human riboflavin transporter 2 (RFVT2). This transporter is ubiquitously expressed and mediates tissue distribution of riboflavin, a water‐soluble vitamin that, after conversion into FMN
Console L., Tolomeo M., Cosco J., Massey K., Barile M., Indiveri C.   +5 more
openaire   +3 more sources