Article

Mitochondrial Abnormalities in iPSC-Derived Motor Neurons From Patients With Riboflavin Transporter Deficiency

2020-11-12

Abstract excerpt

Riboflavin transporter deficiency (RTD) is a childhood-onset neurodegenerative disorder characterized by sensorineural deafness and motor neuron degeneration. Since riboflavin plays key functions in biological oxidation-reduction reactions, energy metabolism pathways involving flavoproteins are affected in RTD. We recently generated iPSC lines from affected individuals as an in vitro model of the disease and docum...

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Literature Corpus work: c2e9965b-3d56-5768-9047-6d65ad07e63b
DOI: 10.20944/preprints202011.0360.v1

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