Results 11 to 20 of about 620,035 (172)

Riboflavin transporter deficiency: AAV9-SLC52A2 gene therapy as a new therapeutic strategy [PDF]

Frontiers in Cellular Neuroscience
Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in SLC52A2 and SLC52A3 genes, encoding the riboflavin (RF) transporters hRFVT2 and hRFVT3.
Cecilia Mei, Cecilia Mei, Valentina Magliocca, Xin Chen, Keith Massey, Anai Gonzalez-Cordero, Steven J. Gray, Marco Tartaglia, Enrico Silvio Bertini, Stefania Corti, Claudia Compagnucci   +10 more
doaj   +7 more sources

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study [PDF]

Orphanet Journal of Rare Diseases
Background Riboflavin transporter deficiency (RTD) is an inborn error of riboflavin transport causing progressive neurological symptoms if left untreated.
B. Jaeger, E. Hoytema van Konijnenburg, M. A. Groenveld, M. Langeveld, N. I. Wolf, A. M. Bosch   +5 more
doaj   +8 more sources

Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons [PDF]

Cell Death Discovery, 2023
Riboflavin Transporter Deficiency (RTD) is a rare genetic, childhood-onset disease. This pathology has a relevant neurological involvement, being characterized by motor symptoms, ponto-bulbar paralysis and sensorineural deafness.
Chiara Marioli, Maurizio Muzzi, Fiorella Colasuonno, Cristian Fiorucci, Nicolò Cicolani, Stefania Petrini, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno   +9 more
doaj   +7 more sources

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

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   +4 more sources

Clinical Presentation and Outcome of Riboflavin Transporter Deficiency: Mini Review After Five Years of Experience [PDF]

Journal of Inherited Metabolic Disease, 2016
Riboflavin (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.
Annet Bosch
exaly   +3 more sources

Supplemental Material, Amir_Supplementary_AppendixB - The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2

, 2020
Supplemental Material, Amir_Supplementary_AppendixB for The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2 by Fatima Amir, Carrie Atzinger, Keith Massey, John Greinwald, Lisa L.
Amir, Fatima, Atzinger, Carrie, Massey, Keith, Greinwald, John, Hunter, Lisa L., Ulm, Elizabeth, Kettler, Margaret   +6 more
core   +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

The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa

Seminars in Pediatric Neurology, 2018
This report describes the first case of a child with genetically confirmed Brown-Vialetto-van Laere syndrome in sub-Saharan Africa. This is an extremely rare clinical condition that presents with an auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise that manifests with diaphragmatic and vocal cord paralysis.
Shaakira, Chaya, Marco, Zampoli, Diane, Gray, Jane, Booth, Gillian, Riordan, Alvin, Ndondo, Karen, Fieggen, Jody, Rusch, George, van der Watt, Komala, Pillay, Francois, van der Westhuizen, Manoj, Menezes, Jo, Wilmshurst   +12 more
openaire   +4 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

A.05 An epidemiologic study of SLC52A2-related Riboflavin Transport Deficiency [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 2017
Background: Riboflavin transporter deficiency (RTD), formerly known as Brown-Vialetto-van Laere syndrome, is an early-onset neurodegenerative disorder with distinctive phenotypes. RTD is caused by mutations in either the SLC52A2 or SLC52A3 genes that encode riboflavin transporters RFVT-2 and RFVT-3, respectively.
JK Mah, M Menezes, K Massey
openaire   +2 more sources