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

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 <i>SLC52A2</i> or <i>SLC52A3</i> genes, resulting in...

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Bibliographic Details
Main Authors: Fiorella Colasuonno, Chiara Marioli, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Biomedicines
Subjects:
riboflavin transporter deficiency
riboflavin
fatty acid oxidation
energy metabolism
oxidative stress
cytoskeleton
Online Access:https://www.mdpi.com/2227-9059/10/6/1329

Internet

https://www.mdpi.com/2227-9059/10/6/1329

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