Article
Implication of folate deficiency in CYP2U1 loss of function.
The Journal of experimental medicine - 1 Nov 2021
Pujol Claire, Legrand Anne, Parodi Livia, Thomas Priscilla, Mochel Fanny, Saracino Dario, Coarelli Giulia, Croon Marijana, Popovic Milica, Valet Manon, Villain Nicolas, Elshafie Shahira, Issa Mahmoud, Zuily Stephane, Renaud Mathilde, Marelli-Tosi Cécilia, Legendre Marine, Trimouille Aurélien, Kemlin Isabelle, Mathieu Sophie, Gleeson Joseph G, Lamari Foudil, Galatolo Daniele, Alkouri Rana, Tse Chantal, Rodriguez Diana, Ewenczyk Claire, Fellmann Florence, Kuntzer Thierry, Blond Emilie, El Hachimi Khalid H, Darios Frédéric, Seyer Alexandre, Gazi Anastasia D, Giavalisco Patrick, Perin Silvina, Boucher Jean-Luc, Le Corre Laurent, Santorelli Filippo M, Goizet Cyril, Zaki Maha S, Picaud Serge, Mourier Arnaud, Steculorum Sophie Marie, Mignot Cyril, Durr Alexandra, Trifunovic Aleksandra, Stevanin Giovanni
Abstract excerpt
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders. Understanding of their pathogenic mechanisms remains sparse, and therapeutic options are lacking. We characterized a mouse model lacking the Cyp2u1 gene, loss of which is known to be involved in a complex form of these diseases in humans. We showed that this model partially recapitulated the clinical and biochemical phenotypes of...
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