Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
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
Published in Brain (London, England : 1878) (01.11.2019)
Published in Brain (London, England : 1878) (01.11.2019)
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Critical role of PCYT2 in muscle health and aging
Cikes, Domagoj, Elsayad, Kareem, Sezgin, Erdinc, Koitai, Erika, Torma Ferenc, Orthofer, Michael, Yarwood, Rebecca, Leonhard Heinz, Sedlyarov, Vitaly, Darwish-Miranda, Nasser, Taylor, Adrian, Grapentine, Sophie, Al-Murshedi, Fathiya, Abot, Anne, Weidinger, Adelheid, Kutchukian, Candice, Sanchez, Colline, Cronin, Shane Jf, Novatchkova, Maria, Kavirayani, Anoop, Schuetz, Thomas, Haubner, Bernhard, Haas, Lisa, Hagelkrueys, Astrid, Jackowski, Suzanne, Kozlov, Andrey, Jacquemond, Vincent, Knauf, Claude, Superti-Furga, Giulio, Rullman, Eric, Gustafsson, Thomas, Mcdermott, John Henry, Lowe, Martin P, Radak, Zsolt, Chamberlain, Jeffrey S, Bakovic, Marica, Banka, Siddharth, Penninger, Josef
Published in bioRxiv (28.07.2022)
Published in bioRxiv (28.07.2022)
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