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

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

10.1093/brain/aww318

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Bibliographic Details
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
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Institution:	National University of Singapore
Language:	English

Description
Summary:	10.1093/brain/aww318