Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

CTP:phosphoethanolamine cytidylyltransferase (ET), encoded by PCYT2, is the rate-limiting enzyme for phosphatidylethanolamine synthesis via the CDP-ethanolamine pathway. Phosphatidylethanolamine is one of the most abundant membrane lipids and is particularly enriched in the brain. We identified five...

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Detalles Bibliográficos
Autores principales: Vaz, Frédéric M, McDermott, John H, Alders, Mariëlle, Wortmann, Saskia B, Kölker, Stefan, Pras-Raves, Mia L, Vervaart, Martin A T, van Lenthe, Henk, Luyf, Angela C M, Elfrink, Hyung L, Metcalfe, Kay, Cuvertino, Sara, Clayton, Peter E, Yarwood, Rebecca, Lowe, Martin P, Lovell, Simon, Rogers, Richard C, van Kampen, Antoine H C, Ruiter, Jos P N, Wanders, Ronald J A, Ferdinandusse, Sacha, van Weeghel, Michel, Engelen, Marc, Banka, Siddharth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821184/
https://www.ncbi.nlm.nih.gov/pubmed/31637422
http://dx.doi.org/10.1093/brain/awz291

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821184/
https://www.ncbi.nlm.nih.gov/pubmed/31637422
http://dx.doi.org/10.1093/brain/awz291

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