Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathology
Cawley, Niamh X, Sojka, Caitlin, Cougnoux, Antony, Lyons, Anna T, Nicoli, Elena-Raluca, Wassif, Christopher A, Porter, Forbes D
Published in PloS one (30.01.2020)
Published in PloS one (30.01.2020)
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Journal Article
Identification of novel bile acids as biomarkers for the early diagnosis of Niemann‐Pick C disease
Mazzacuva, Francesca, Mills, Philippa, Mills, Kevin, Camuzeaux, Stephane, Gissen, Paul, Nicoli, Elena‐Raluca, Wassif, Christopher, Vruchte, Danielle, Porter, Forbes D., Maekawa, Masamitsu, Mano, Nariyasu, Iida, Takashi, Platt, Frances, Clayton, Peter T.
Published in FEBS letters (01.06.2016)
Published in FEBS letters (01.06.2016)
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Journal Article
IDH1 mutations induce organelle defects via dysregulated phospholipids
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
Published in Nature communications (27.01.2021)
Published in Nature communications (27.01.2021)
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Journal Article
Albumin Incorporation in Polyethylenimine–DNA Polyplexes Influences Transfection Efficiency
Syga, Marie-Isabel, Nicolì, Elena, Kohler, Esther, Shastri, V. Prasad
Published in Biomacromolecules (11.01.2016)
Published in Biomacromolecules (11.01.2016)
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Journal Article
Enhanced gene silencing through human serum albumin-mediated delivery of polyethylenimine-siRNA polyplexes
Nicolì, Elena, Syga, Marie Isabel, Bosetti, Michela, Shastri, V Prasad
Published in PloS one (09.04.2015)
Published in PloS one (09.04.2015)
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Journal Article
Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program
Montano, Carolina, Cassini, Thomas, Ziegler, Shira G., Boehm, Manfred, Nicoli, Elena‐Raluca, Mindell, Joseph A., Soldatos, Ariane G., Manoli, Irini, Wolfe, Lynne, Macnamara, Ellen F., Malicdan, May Christine V., Adams, David R., Tifft, Cynthia J., Toro, Camilo, Gahl, William A.
Published in Journal of inherited metabolic disease (01.09.2022)
Published in Journal of inherited metabolic disease (01.09.2022)
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Journal Article
GM1 Gangliosidosis-A Mini-Review
Nicoli, Elena-Raluca, Annunziata, Ida, d'Azzo, Alessandra, Platt, Frances M, Tifft, Cynthia J, Stepien, Karolina M
Published in Frontiers in genetics (03.09.2021)
Published in Frontiers in genetics (03.09.2021)
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Journal Article
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Morimoto, Marie, Nicoli, Elena-Raluca, Kuptanon, Chulaluck, Roney, Joseph C, Serra-Vinardell, Jenny, Sharma, Prashant, Adams, David R, Gallin, John I, Holland, Steven M, Rosenzweig, Sergio D, Barbot, Jose, Ciccone, Carla, Huizing, Marjan, Toro, Camilo, Gahl, William A, Introne, Wendy J, Malicdan, May Christine V
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis
Allende, Maria L., Lee, Y. Terry, Byrnes, Colleen, Li, Cuiling, Tumetova, Galina, Bakir, Jenna Y., Nicoli, Elena-Raluca, James, Virginia K., Brodbelt, Jennifer S., Tifft, Cynthia J., Proia, Richard L.
Published in Journal of lipid research (01.12.2023)
Published in Journal of lipid research (01.12.2023)
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Journal Article
The genotoxicity of PEI-based nanoparticles is reduced by acetylation of polyethylenimine amines in human primary cells
Calarco, Anna, Bosetti, Michela, Margarucci, Sabrina, Fusaro, Luca, Nicolì, Elena, Petillo, Orsolina, Cannas, Mario, Galderisi, Umberto, Peluso, Gianfranco
Published in Toxicology letters (27.03.2013)
Published in Toxicology letters (27.03.2013)
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Journal Article
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients
Nicoli, Elena-Raluca, Huebecker, Mylene, Han, Sangwoo T., Garcia, Karolyn, Munasinghe, Jeeva, Lizak, Martin, Latour, Yvonne, Yoon, Robin, Glase, Brianna, Tyrlik, Michal, Peiravi, Morteza, Springer, Danielle, Baker, Eva H., Priestman, David, Sidhu, Rohini, Kell, Pamela, Jiang, Xuntian, Kolstad, Josephine, Kuhn, Anna Luisa, Shazeeb, Mohammed Salman, Acosta, Maria T., Proia, Richard L., Platt, Frances M., Tifft, Cynthia J.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls
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
Published in Scientific reports (24.07.2017)
Published in Scientific reports (24.07.2017)
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Journal Article
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome
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
Published in Frontiers in genetics (08.03.2023)
Published in Frontiers in genetics (08.03.2023)
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Journal Article
1F - Pelvic floor dysfunction card: A single-centre analysis
Mella, Veronica, Crescini, Valentina, Clemente, Buonaventura, Pedrocchi, Monica, Nicoli, Elena, Caruso, Orlando
Published in Continence (Amsterdam) (01.06.2023)
Published in Continence (Amsterdam) (01.06.2023)
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Journal Article
55 - Perineal card as a tool for early identification of increased perineal risk: Differences in referral indications for pelvic floor rehabilitation
Bosio, Sara, Perossini, Silvia, Nicoli, Elena, Manodoro, Stefano, Bonaccorso, Grazia, Tangi, Amanda, Bonelli, Giulia, Boccuti, Anna Maria, Caruso, Orlando
Published in Continence (Amsterdam) (01.06.2024)
Published in Continence (Amsterdam) (01.06.2024)
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Journal Article
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease
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
Published in PloS one (28.03.2016)
Published in PloS one (28.03.2016)
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Journal Article
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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
Published in PloS one (15.03.2017)
Published in PloS one (15.03.2017)
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Journal Article
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
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
Published in EBioMedicine (01.06.2023)
Published in EBioMedicine (01.06.2023)
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