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: 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

Internet

https://scholarbank.nus.edu.sg/handle/10635/173257

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