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

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, resulting in insufficient supply of riboflavin (vit...

Descripción completa

Detalles Bibliográficos
Autores principales: Colasuonno, Fiorella, Marioli, Chiara, Tartaglia, Marco, Bertini, Enrico, Compagnucci, Claudia, Moreno, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219947/
https://www.ncbi.nlm.nih.gov/pubmed/35740351
http://dx.doi.org/10.3390/biomedicines10061329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9219947/
https://www.ncbi.nlm.nih.gov/pubmed/35740351
http://dx.doi.org/10.3390/biomedicines10061329

Ejemplares similares