Differential response of the liver to bile acid treatment in a mouse model of Niemann-Pick disease type C

por Nicoli, Elena-Raluca, Huebecker, Mylene, Smith, David, Morris, Lauren, Platt, Frances M.
Publicado 2018

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases

por Evans, William R.H., Nicoli, Elena-Raluca, Wang, Raymond Y., Movsesyan, Nina, Platt, Frances M.
Publicado 2017

GM1 Gangliosidosis—A Mini-Review

por Nicoli, Elena-Raluca, Annunziata, Ida, d’Azzo, Alessandra, Platt, Frances M., Tifft, Cynthia J., Stepien, Karolina M.
Publicado 2021

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

por Cawley, Niamh X., Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T., Nicoli, Elena‐Raluca, Wassif, Christopher A., Porter, Forbes D.
Publicado 2020

Assessing Putative Markers of Colorectal Cancer Stem Cells: From Colonoscopy to Gene Expression Profiling

por Harbiyeli, Irina Florina Cherciu, Burtea, Daniela Elena, Ivan, Elena Tatiana, Streață, Ioana, Nicoli, Elena Raluca, Uscatu, Daniel, Șerbănescu, Mircea-Sebastian, Ioana, Mihai, Vilmann, Peter, Săftoiu, Adrian
Publicado 2022

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

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

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

por Allende, Maria L., Lee, Y. Terry, Byrnes, Colleen, Li, Cuiling, Tuymetova, Galina, Bakir, Jenna Y., Nicoli, Elena-Raluca, James, Virginia K., Brodbelt, Jennifer S., Tifft, Cynthia J., Proia, Richard L.
Publicado 2023

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease

por Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, te Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Publicado 2016

Assessing tumor angiogenesis in colorectal cancer by quantitative contrast-enhanced endoscopic ultrasound and molecular and immunohistochemical analysis

por Cârţână, Elena-Tatiana, Gheonea, Dan Ionuţ, Cherciu, Irina Florina, Streaţă, Ioana, Uscatu, Constantin-Daniel, Nicoli, Elena-Raluca, Ioana, Mihai, Pirici, Daniel, Georgescu, Claudia-Valentina, Alexandru, Dragoş-Ovidiu, Şurlin, Valeriu, Gruionu, Gabriel, Săftoiu, Adrian
Publicado 2018

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

por Kuptanon, Chulaluk, Morimoto, Marie, Nicoli, Elena-Raluca, Stephen, Joshi, Yarnell, David S., Dorward, Heidi, Owen, William, Parikh, Suhag, Ozbek, Namik Yasar, Malbora, Baris, Ciccone, Carla, Gunay-Aygun, Meral, Gahl, William A., Introne, Wendy J., Malicdan, May Christine V.
Publicado 2023

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

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

Defective iron homeostasis and hematological abnormalities in Niemann-Pick disease type C1

por Chen, Oscar C W, Siebel, Stephan, Colaco, Alexandria, Nicoli, Elena-Raluca, Platt, Nick, Shepherd, Dawn, Newman, Stephanie, Armitage, Andrew E, Farhat, Nicole Y, Seligmann, George, Smith, Claire, Smith, David A, Abdul-Sada, Alaa, Jeyakumar, Mylvaganam, Drakesmith, Hal, Porter, Forbes D, Platt, Frances M
Publicado 2023

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis

por Kell, Pamela, Sidhu, Rohini, Qian, Mingxing, Mishra, Sonali, Nicoli, Elena-Raluca, D'Souza, Precilla, Tifft, Cynthia J., Gross, Amanda L., Gray-Edwards, Heather L., Martin, Douglas R., Sena- Esteves, Miguel, Dietzen, Dennis J., Singh, Manmilan, Luo, Jingqin, Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Publicado 2023

IDH1 mutations induce organelle defects via dysregulated phospholipids

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

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

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