A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis

• Main Authors: Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Fernandez-Murray, J Pedro, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H
• Other Authors: DEPT OF BIOCHEMISTRY
• Format: Article
• Language: English
• Published: OXFORD UNIV PRESS 2020
• Subjects: Science & Technology; Life Sciences & Biomedicine; Clinical Neurology; Neurosciences; Neurosciences & Neurology; EPT1 mutation; Kennedy pathway; phospholipid biosynthesis; hereditary spastic paraplegia; whole exome sequencing; HEREDITARY SPASTIC PARAPLEGIA; SACCHAROMYCES-CEREVISIAE; MOLECULAR-MECHANISMS; CDP-ETHANOLAMINE; FATTY-ACID; PHOSPHATIDYLETHANOLAMINE; CHOLINEPHOSPHOTRANSFERASE; PHOSPHATIDYLCHOLINE; CLONING; FORM
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/173257
• Institution: National University of Singapore

10.1093/brain/aww318