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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
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. Ahmed MY, et al. Among authors: mcmaster cr. Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318. Brain. 2017. PMID: 28052917 Free PMC article.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Klöckner C, Fernández-Murray JP, Tavasoli M, Sticht H, Stoltenburg-Didinger G, Scholle LM, Bakhtiari S, Kruer MC, Darvish H, Firouzabadi SG, Pagnozzi A, Shukla A, Girisha KM, Narayanan DL, Kaur P, Maroofian R, Zaki MS, Noureldeen MM, Merkenschlager A, Gburek-Augustat J, Cali E, Banu S, Nahar K, Efthymiou S, Houlden H, Jamra RA, Williams J, McMaster CR, Platzer K. Klöckner C, et al. Among authors: mcmaster cr. Brain. 2022 Jun 30;145(6):1916-1923. doi: 10.1093/brain/awac074. Brain. 2022. PMID: 35202461 Free PMC article.
Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism.
Tavasoli M, Lahire S, Sokolenko S, Novorolsky R, Reid SA, Lefsay A, Otley MOC, Uaesoontrachoon K, Rowsell J, Srinivassane S, Praest M, MacKinnon A, Mammoliti MS, Maloney AA, Moraca M, Pedro Fernandez-Murray J, McKenna M, Sinal CJ, Nagaraju K, Robertson GS, Hoffman EP, McMaster CR. Tavasoli M, et al. Among authors: mcmaster cr. Nat Commun. 2022 Mar 23;13(1):1559. doi: 10.1038/s41467-022-29270-z. Nat Commun. 2022. PMID: 35322809 Free PMC article.
111 results