Disease models for the development of therapies for lysosomal storage diseases
Xu, Miao, Motabar, Omid, Ferrer, Marc, Marugan, Juan J., Zheng, Wei, Ottinger, Elizabeth A.
Published in Annals of the New York Academy of Sciences (01.05.2016)
Published in Annals of the New York Academy of Sciences (01.05.2016)
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Journal Article
Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus
Lyons, Erica L, Watson, Daniel, Alodadi, Mohammad S, Haugabook, Sharie J, Tawa, Gregory J, Hannah-Shmouni, Fady, Porter, Forbes D, Collins, Jack R, Ottinger, Elizabeth A, Mudunuri, Uma S
Published in BMC genomics (16.08.2023)
Published in BMC genomics (16.08.2023)
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Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses
Sima, Ni, Li, Rong, Huang, Wei, Xu, Miao, Beers, Jeanette, Zou, Jizhong, Titus, Steven, Ottinger, Elizabeth A, Marugan, Juan J, Xie, Xing, Zheng, Wei
Published in Orphanet journal of rare diseases (10.04.2018)
Published in Orphanet journal of rare diseases (10.04.2018)
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Journal Article
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease
Ottinger, Elizabeth A, Kao, Mark L, Carrillo-Carrasco, Nuria, Yanjanin, Nicole, Shankar, Roopa Kanakatti, Janssen, Marjo, Brewster, Marcus, Scott, Ilona, Xu, Xin, Cradock, Jim, Terse, Pramod, Dehdashti, Seameen J, Marugan, Juan, Zheng, Wei, Portilla, Lili, Hubbs, Alan, Pavan, William J, Heiss, John, Vite, Charles H, Walkley, Steven U, Ory, Daniel S, Silber, Steven A, Porter, Forbes D, Austin, Christopher P, McKew, John C
Published in Current topics in medicinal chemistry (01.02.2014)
Published in Current topics in medicinal chemistry (01.02.2014)
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Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene
Li, Rong, Baskfield, Amanda, Lin, Yongshun, Beers, Jeanette, Zou, Jizhong, Liu, Chengyu, Jaffré, Fabrice, Roberts, Amy E., Ottinger, Elizabeth A., Kontaridis, Maria I., Zheng, Wei
Published in Stem cell research (01.01.2019)
Published in Stem cell research (01.01.2019)
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Journal Article
Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts
Gorshkov, Kirill, Wang, Amy Q., Sun, Wei, Fisher, Ethan, Frigeni, Marta, Singleton, Marc, Thorne, Natasha, Class, Bradley, Huang, Wenwei, Longo, Nicola, Do, Minh‐Ha T., Ottinger, Elizabeth A., Xu, Xin, Zheng, Wei
Published in Pharmacology research & perspectives (01.12.2019)
Published in Pharmacology research & perspectives (01.12.2019)
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Journal Article
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
Ory, Daniel S, Ottinger, Elizabeth A, Farhat, Nicole Yanjanin, King, Kelly A, Jiang, Xuntian, Weissfeld, Lisa, Berry-Kravis, Elizabeth, Davidson, Cristin D, Bianconi, Simona, Keener, Lee Ann, Rao, Ravichandran, Soldatos, Ariane, Sidhu, Rohini, Walters, Kimberly A, Xu, Xin, Thurm, Audrey, Solomon, Beth, Pavan, William J, Machielse, Bernardus N, Kao, Mark, Silber, Steven A, McKew, John C, Brewer, Carmen C, Vite, Charles H, Walkley, Steven U, Austin, Christopher P, Porter, Forbes D
Published in The Lancet (British edition) (14.10.2017)
Published in The Lancet (British edition) (14.10.2017)
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Journal Article
In vitro and in vivo translational models for rare liver diseases
Haugabook, Sharie J., Ferrer, Marc, Ottinger, Elizabeth A.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2019)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.05.2019)
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Journal Article
Stabilized trimeric peptide immunogens of the complete HIV-1 gp41 N-heptad repeat and their use as HIV-1 vaccine candidates
Wu, Chengwei, Raheem, Izzat T, Nahas, Debbie D, Citron, Michael, Kim, Peter S, Montefiori, David C, Ottinger, Elizabeth A, Hepler, Robert W, Hrin, Renee, Patel, Sangita B, Soisson, Stephen M, Joyce, Joseph G
Published in Proceedings of the National Academy of Sciences - PNAS (28.05.2024)
Published in Proceedings of the National Academy of Sciences - PNAS (28.05.2024)
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In Vivo Efficacy of VT-1129 against Experimental Cryptococcal Meningitis with the Use of a Loading Dose-Maintenance Dose Administration Strategy
Wiederhold, Nathan P, Xu, Xin, Wang, Amy, Najvar, Laura K, Garvey, Edward P, Ottinger, Elizabeth A, Alimardanov, Asaf, Cradock, Jim, Behnke, Mark, Hoekstra, William J, Brand, Stephen R, Schotzinger, Robert J, Jaramillo, Rosie, Olivo, Marcos, Kirkpatrick, William R, Patterson, Thomas F
Published in Antimicrobial agents and chemotherapy (01.11.2018)
Published in Antimicrobial agents and chemotherapy (01.11.2018)
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Journal Article
Crystal Structure of the Pleckstrin Homology-Phosphotyrosine Binding (PH-PTB) Targeting Region of Insulin Receptor Substrate 1
Dhe-Paganon, Sirano, Ottinger, Elizabeth A., Nolte, Robert T., Eck, Michael J., Shoelson, Steven E.
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (20.07.1999)
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Journal Article
Successfully Navigating Food and Drug Administration Orphan Drug and Rare Pediatric Disease Designations for AAV9-hPCCA Gene Therapy: The National Institutes of Health Platform Vector Gene Therapy Experience
Lomash, Richa Madan, Shchelochkov, Oleg, Chandler, Randy J, Venditti, Charles P, Pariser, Anne R, Ottinger, Elizabeth A
Published in Human gene therapy (01.03.2023)
Published in Human gene therapy (01.03.2023)
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Journal Article
Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease
Walkley, Steven U, Davidson, Cristin D, Jacoby, Jonathan, Marella, Philip D, Ottinger, Elizabeth A, Austin, Christopher P, Porter, Forbes D, Vite, Charles H, Ory, Daniel S
Published in Orphanet journal of rare diseases (01.12.2016)
Published in Orphanet journal of rare diseases (01.12.2016)
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Journal Article
Tandem SH2 Domains Confer High Specificity in Tyrosine Kinase Signaling
Ottinger, Elizabeth A., Botfield, Martyn C., Shoelson, Steven E.
Published in The Journal of biological chemistry (09.01.1998)
Published in The Journal of biological chemistry (09.01.1998)
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Journal Article
Small Molecule Mimetics of an HIV-1 gp41 Fusion Intermediate as Vaccine Leads
Caulfield, Michael J., Dudkin, Vadim Y., Ottinger, Elizabeth A., Getty, Krista L., Zuck, Paul D., Kaufhold, Robin M., Hepler, Robert W., McGaughey, Georgia B., Citron, Michael, Hrin, Renee C., Wang, Ying-Jie, Miller, Michael D., Joyce, Joseph G.
Published in The Journal of biological chemistry (24.12.2010)
Published in The Journal of biological chemistry (24.12.2010)
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Journal Article
Modular Folding and Evidence for Phosphorylation-induced Stabilization of an hsp90-dependent Kinase
Hartson, S D, Ottinger, E A, Huang, W, Barany, G, Burn, P, Matts, R L
Published in The Journal of biological chemistry (03.04.1998)
Published in The Journal of biological chemistry (03.04.1998)
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