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Items: 3

1.
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability
Rosemary B. Cornell, Svetla G. Taneva, Melissa K. Dennis, Ronnie Tse, Randeep K. Dhillon, Jaeyong Lee
J Biol Chem. 2019 Feb 1; 294(5): 1490–1501. Published online 2018 Dec 17. doi: 10.1074/jbc.RA118.006457
PMCID:
PMC6364779
AbstractArticlePDF–3.2M
2.
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy
Francesco Testa, Mariaelena Filippelli, Raffaella Brunetti-Pierri, Giuseppina Di Fruscio, Valentina Di Iorio, Mariateresa Pizzo, Annalaura Torella, Maria Rosaria Barillari, Vincenzo Nigro, Nicola Brunetti-Pierri, Francesca Simonelli, Sandro Banfi
Eur J Hum Genet. 2017 May; 25(5): 651–655. Published online 2017 Mar 8. doi: 10.1038/ejhg.2017.23
PMCID:
PMC5392360
AbstractArticlePDF–1.7M
3.
Identification of hydrophobic amino acids required for lipid activation of C. elegans CTP:phosphocholine cytidylyltransferase
Jay D Braker, Kevin J. Hodel, David R. Mullins, Jon A. Friesen
Arch Biochem Biophys. Author manuscript; available in PMC 2010 Dec 1.
Published in final edited form as: Arch Biochem Biophys. 2009 Dec; 492(1-2): 10–16. Published online 2009 Oct 23. doi: 10.1016/j.abb.2009.10.004
PMCID:
PMC2787997
AbstractArticlePDF–972K

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