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Peripheral nervous system plasmalogens regulate Schwann cell differentiation an...

Silva, TF; Eira, J; Lopes, AT; Malheiro, AR; Sousa, V; Luoma, A; Avila, RL; Wanders, RJ; Just, WW; Kirschner, DA; Sousa, MM; Brites, P

Rhizomelic chondrodysplasia punctata (RCDP) is a developmental disorder characterized by hypotonia, cataracts, abnormal ossification, impaired motor development, and intellectual disability. The underlying etiology of RCDP is a deficiency in the biosynthesis of ether phospholipids, of which plasmalogens are the most abundant form in nervous tissue and myelin; however, the role of plasmalogens in the peripheral ...


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