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10.1093/brain/aww318

http://scihub22266oqcxt.onion/10.1093/brain/aww318
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C5382949!5382949!28052917
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suck abstract from ncbi


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pmid28052917      Brain 2017 ; 140 (3): 547-54
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  • A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis #MMPMID28052917
  • Ahmed MY; Al-Khayat A; Al-Murshedi F; Al-Futaisi A; Chioza BA; Pedro Fernandez-Murray J; Self JE; Salter CG; Harlalka GV; Rawlins LE; Al-Zuhaibi S; Al-Azri F; Al-Rashdi F; Cazenave-Gassiot A; Wenk MR; Al-Salmi F; Patton MA; Silver DL; Baple EL; McMaster CR; Crosby AH
  • Brain 2017[Mar]; 140 (3): 547-54 PMID28052917show ga
  • EPT1 encodes an enzyme involved in the Kennedy pathway of phospholipid biosynthesis, important for cell membrane integrity. Ahmed et al. identify an EPT1 mutation that impairs enzyme activity and causes complex motor neuron degenerative disease. This is the first human disorder shown to arise through Kennedy pathway dysfunction.
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