Results 1 to 10 of about 17,684 (152)

Riboflavin transporter deficiency in young adults unmasked by dietary changes [PDF]

JIMD Reports
Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction.
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch   +6 more
doaj   +7 more sources

Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency [PDF]

Brain Sciences, 2022
(1) Background: Riboflavin transporter deficiency (RTD), formerly known as Brown–Vialetto–Van Laere syndrome, is a rare condition that causes a progressive neurological syndrome in early life with features of auditory and optic neuropathy, weakness of ...
Lin Zhang, Dominic Thyagarajan
doaj   +7 more sources

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene [PDF]

Molecular Genetics and Metabolism Reports
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and ...
Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede   +6 more
doaj   +7 more sources

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy [PDF]

Metabolites
Background/Objective: Riboflavin transporter deficiency (RTD) is a rare neurodegenerative disease, with under 500 cases genetically confirmed since the early 2000s.
Justyna Paprocka, Julia Karpierz, Michał Hutny, Jagoda Hofman-Hutna, Artur Dobosz   +4 more
doaj   +5 more sources

New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement [PDF]

Biomedicines, 2022
Riboflavin transporter deficiency (RTD) is a rare genetic disorder characterized by motor, sensory and cranial neuropathy. This childhood-onset neurodegenerative disease is caused by biallelic pathogenic variants in either SLC52A2 or SLC52A3 genes ...
Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno   +5 more
doaj   +5 more sources

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   +6 more sources

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes [PDF]

Frontiers in Cellular Neuroscience
IntroductionRiboflavin transporter deficiency type 2 (RTD2) is a rare neurodegenerative autosomal recessive disease caused by mutations in the SLC52A2 gene encoding the riboflavin transporters, RFVT2.
Valentina Magliocca, Valentina Magliocca, Angela Lanciotti, Elena Ambrosini, Lorena Travaglini, Veronica D’Ezio, Valentina D’Oria, Stefania Petrini, Michela Catteruccia, Keith Massey, Marco Tartaglia, Enrico Bertini, Tiziana Persichini, Claudia Compagnucci   +13 more
doaj   +5 more sources

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

Antioxidants, 2020
Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration.
Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno   +4 more
doaj   +5 more sources

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency [PDF]

Disease Models & Mechanisms, 2021
The cytoskeletal network plays a crucial role in the differentiation, morphogenesis, function and homeostasis of the nervous tissue, so that alterations in any of its components may lead to neurodegenerative diseases.
Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci   +8 more
doaj   +3 more sources

Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene [PDF]

Metabolites
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyneuropathy, and ...
Jean-Marc T. Jreissati, Leonard Lawandos, Julien T. Jreissati, Pascale E. Karam   +3 more
doaj   +3 more sources