Towards a New Diagnostic Standard for Niemann–Pick C Disease

por Jiang, Xuntian, Ory, Daniel S.
Publicado 2016

Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency

por Gaudioso, Ángel, Jiang, Xuntian, Casas, Josefina, Schuchman, Edward H., Ledesma, María Dolores
Publicado 2023

Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators

por Stampfer, Miriam, Theiss, Susanne, Amraoui, Yasmina, Jiang, Xuntian, Keller, Sigrid, Ory, Daniel S, Mengel, Eugen, Fischer, Christine, Runz, Heiko
Publicado 2013

Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations

por Cresci, Sharon, Zhang, Ruibo, Yang, Qiong, Duncan, Meredith S., Xanthakis, Vanessa, Jiang, Xuntian, Vasan, Ramachandran S, Schaffer, Jean E., Peterson, Linda R.
Publicado 2020

Choline, DHA, and Diarrheal Disease Associated with Growth Faltering in a Case-Control Study

por Diaz, Jenna N, Dulience, Sherlie Jean Louis, Wolthausen, Noah, Jiang, Xuntian, Gyimah, Emmanuel, Marhône Pierre, Francesca J, Kuhlmann, F Matthew, Iannotti, Lora L
Publicado 2022

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid

por Sidhu, Rohini, Jiang, Hui, Farhat, Nicole Y., Carrillo-Carrasco, Nuria, Woolery, Myra, Ottinger, Elizabeth, Porter, Forbes D., Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Publicado 2015

Prevalence of diarrheagenic Escherichia coli and impact on child health in Cap-Haitien, Haiti

por Diaz, Jenna N., Iannotti, Lora L., Louis Dulience, Sherlie Jean, Vie, Sydney, Jiang, Xuntian, Grigura, Vadim, Boncy, Jacques, Pierre, Francesca J. Marhône, Kuhlmann, F. Matthew
Publicado 2023

Global Biochemical Profiling Identifies β-Hydroxypyruvate as a Potential Mediator of Type 2 Diabetes in Mice and Humans

por Zhang, Sheng, Wang, Songyan, Puhl, Matthew D., Jiang, Xuntian, Hyrc, Krzysztof L., Laciny, Erin, Wallendorf, Michael J., Pappan, Kirk L., Coyle, Joseph T., Wice, Burton M.
Publicado 2015

ER-lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signaling in Niemann-Pick type C

por Lim, Chun-Yan, Davis, Oliver B., Shin, Hijai R., Zhang, Justin, Berdan, Charles A., Jiang, Xuntian, Counihan, Jessica L., Ory, Daniel S., Nomura, Daniel K., Zoncu, Roberto
Publicado 2019

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases

por Ou, Li, Przybilla, Michael J, Tăbăran, Alexandru-Flaviu, Overn, Paula, O’Sullivan, M. Gerard, Jiang, Xuntian, Sidhu, Rohini, Kell, Pamela J., Ory, Daniel S., Whitley, Chester B.
Publicado 2020

A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1

por Prabhu, Anika V., Kang, Insung, De Pace, Raffaella, Wassif, Christopher A., Fujiwara, Hideji, Kell, Pamela, Jiang, Xuntian, Ory, Daniel S., Bonifacino, Juan S., Ward, Michael E., Porter, Forbes D.
Publicado 2021

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

por Gray-Edwards, Heather L., Jiang, Xuntian, Randle, Ashley N., Taylor, Amanda R., Voss, Taylor L., Johnson, Aime K., McCurdy, Victoria J., Sena-Esteves, Miguel, Ory, Daniel S., Martin, Douglas R.
Publicado 2017

Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis

por Przybilla, Michael J., Stewart, Christine, Carlson, Timothy W., Ou, Li, Koniar, Brenda L., Sidhu, Rohini, Kell, Pamela J., Jiang, Xuntian, Jarnes, Jeanine R., O'Sullivan, M. Gerard, Whitley, Chester B.
Publicado 2021

4β-Hydroxycholesterol is a prolipogenic factor that promotes SREBP1c expression and activity through the liver X receptor

por Moldavski, Ofer, Zushin, Peter-James H., Berdan, Charles A., Van Eijkeren, Robert J., Jiang, Xuntian, Qian, Mingxing, Ory, Daniel S., Covey, Douglas F., Nomura, Daniel K., Stahl, Andreas, Weiss, Ethan J., Zoncu, Roberto
Publicado 2021

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1

por Reynolds, Margaret, Linneman, Laura A., Luna, Sofia, Warner, Barbara B., Turmelle, Yumirle P., Kulkarni, Sakil S., Jiang, Xuntian, Khanna, Geetika, Shinawi, Marwan, Porter, Forbes D., Ory, Daniel S., Cole, F. Sessions, Dickson, Patricia I.
Publicado 2021

Ceramide Remodeling and Risk of Cardiovascular Events and Mortality

por Peterson, Linda R., Xanthakis, Vanessa, Duncan, Meredith S., Gross, Stefan, Friedrich, Nele, Völzke, Henry, Felix, Stephan B., Jiang, Hui, Sidhu, Rohini, Nauck, Matthias, Jiang, Xuntian, Ory, Daniel S., Dörr, Marcus, Vasan, Ramachandran S., Schaffer, Jean E.
Publicado 2018

CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β–Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease

por Rebiai, Rima, Rue, Emily, Zaldua, Steve, Nguyen, Duc, Scesa, Giuseppe, Jastrzebski, Martin, Foster, Robert, Wang, Bin, Jiang, Xuntian, Tai, Leon, Brady, Scott T., van Breemen, Richard, Givogri, Maria I., Sands, Mark S., Bongarzone, Ernesto R.
Publicado 2022

Loss of SNORA73 reprograms cellular metabolism and protects against steatohepatitis

por Sletten, Arthur C., Davidson, Jessica W., Yagabasan, Busra, Moores, Samantha, Schwaiger-Haber, Michaela, Fujiwara, Hideji, Gale, Sarah, Jiang, Xuntian, Sidhu, Rohini, Gelman, Susan J., Zhao, Shuang, Patti, Gary J., Ory, Daniel S., Schaffer, Jean E.
Publicado 2021

Author Correction: Loss of SNORA73 reprograms cellular metabolism and protects against steatohepatitis

por Sletten, Arthur C., Davidson, Jessica W., Yagabasan, Busra, Moores, Samantha, Schwaiger-Haber, Michaela, Fujiwara, Hideji, Gale, Sarah, Jiang, Xuntian, Sidhu, Rohini, Gelman, Susan J., Zhao, Shuang, Patti, Gary J., Ory, Daniel S., Schaffer, Jean E.
Publicado 2021

Simple nutrients bypass the requirement for HLH-30 in coupling lysosomal nutrient sensing to survival

por Murphy, John T., Liu, Haiyan, Ma, Xiucui, Shaver, Alex, Egan, Brian M., Oh, Clara, Boyko, Alexander, Mazer, Travis, Ang, Samuel, Khopkar, Rohan, Javaheri, Ali, Kumar, Sandeep, Jiang, Xuntian, Ory, Daniel, Mani, Kartik, Matkovich, Scot J., Kornfeld, Kerry, Diwan, Abhinav
Publicado 2019