Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 1; referees: 2 approved, 1 not approved]

by Elena-Raluca Nicoli, David Smith, Lauren Morris, Frances M. Platt
Published 2017-08-01

Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C [version 2; referees: 2 approved, 1 not approved]

by Elena-Raluca Nicoli, Mylene Huebecker, David Smith, Lauren Morris, Frances M. Platt
Published 2018-04-01

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases [version 1; referees: 2 approved]

by William R.H. Evans, Elena-Raluca Nicoli, Raymond Y. Wang, Nina Movsesyan, Frances M. Platt
Published 2017-08-01

Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology.

by Niamh X Cawley, Caitlin Sojka, Antony Cougnoux, Anna T Lyons, Elena-Raluca Nicoli, Christopher A Wassif, Forbes D Porter
Published 2020-01-01

GM1 Gangliosidosis—A Mini-Review

by Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien
Published 2021-09-01

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

by Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld
Published 2017-07-01

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

by Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Published 2017-01-01

IDH1 mutations induce organelle defects via dysregulated phospholipids

by Adrian Lita, Artem Pliss, Andrey Kuzmin, Tomohiro Yamasaki, Lumin Zhang, Tyrone Dowdy, Christina Burks, Natalia de Val, Orieta Celiku, Victor Ruiz-Rodado, Elena-Raluca Nicoli, Michael Kruhlak, Thorkell Andresson, Sudipto Das, Chunzhang Yang, Rebecca Schmitt, Christel Herold-Mende, Mark R. Gilbert, Paras N. Prasad, Mioara Larion
Published 2021-01-01

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.

by Elena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, Christopher A Wassif, James Gray, Kathryn R Burkert, David A Smith, Lauren Morris, Stephanie M Cologna, Cody J Peer, Tristan M Sissung, Constantin-Daniel Uscatu, William D Figg, William J Pavan, Charles H Vite, Forbes D Porter, Frances M Platt
Published 2016-01-01