Trifunctional lipid probes for comprehensive studies of single lipid species in living cells
Höglinger, Doris, Nadler, André, Haberkant, Per, Kirkpatrick, Joanna, Schifferer, Martina, Stein, Frank, Hauke, Sebastian, Porter, Forbes D., Schultz, Carsten
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2017)
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High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets
Wassif, Christopher A., Cross, Joanna L., Iben, James, Sanchez-Pulido, Luis, Cougnoux, Antony, Platt, Frances M., Ory, Daniel S., Ponting, Chris P., Bailey-Wilson, Joan E., Biesecker, Leslie G., Porter, Forbes D.
Published in Genetics in medicine (01.01.2016)
Published in Genetics in medicine (01.01.2016)
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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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Intracellular sphingosine releases calcium from lysosomes
Höglinger, Doris, Haberkant, Per, Aguilera-Romero, Auxiliadora, Riezman, Howard, Porter, Forbes D, Platt, Frances M, Galione, Antony, Schultz, Carsten
Published in eLife (27.11.2015)
Published in eLife (27.11.2015)
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Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention
Cougnoux, Antony, Drummond, Rebecca A, Collar, Amanda L, Iben, James R, Salman, Alexander, Westgarth, Harrison, Wassif, Christopher A, Cawley, Niamh X, Farhat, Nicole Y, Ozato, Keiko, Lionakis, Michail S, Porter, Forbes D
Published in Human molecular genetics (15.06.2018)
Published in Human molecular genetics (15.06.2018)
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Journal Article
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S]
Jiang, Xuntian, Sidhu, Rohini, Porter, Forbes D., Yanjanin, Nicole M., Speak, Anneliese O., te Vruchte, Danielle Taylor, Platt, Frances M., Fujiwara, Hideji, Scherrer, David E., Zhang, Jessie, Dietzen, Dennis J., Schaffer, Jean E., Ory, Daniel S.
Published in Journal of lipid research (01.07.2011)
Published in Journal of lipid research (01.07.2011)
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Swallowing characterization of adult-onset Niemann-Pick, type C1 patients
Solomon, Beth I, Muéoz, Andrea M, Sinaii, Ninet, Mohamed, Hibaaq, Farhat, Nicole M, Alexander, Derek, Do, An Dang, Porter, Forbes D
Published in Orphanet journal of rare diseases (11.06.2024)
Published in Orphanet journal of rare diseases (11.06.2024)
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Journal Article
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease
Sidhu, Rohini, Mondjinou, Yawo, Qian, Mingxing, Song, Haowei, Kumar, Arun Babu, Hong, Xinying, Hsu, Fong-Fu, Dietzen, Dennis J., Yanjanin, Nicole M., Porter, Forbes D., Berry-Kravis, Elizabeth, Vite, Charles H., Gelb, Michael H., Schaffer, Jean E., Ory, Daniel S., Jiang, Xuntian
Published in Journal of lipid research (01.08.2019)
Published in Journal of lipid research (01.08.2019)
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Journal Article
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3
Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.
Published in Journal of proteome research (07.07.2023)
Published in Journal of proteome research (07.07.2023)
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Journal Article
Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process
Wang, Chao, Scott, Samantha M, Subramanian, Kanagaraj, Loguercio, Salvatore, Zhao, Pei, Hutt, Darren M, Farhat, Nicole Y, Porter, Forbes D, Balch, William E
Published in Nature communications (07.11.2019)
Published in Nature communications (07.11.2019)
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Journal Article
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
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease
Platt, Frances M, Wassif, Christopher, Colaco, Alexandria, Dardis, Andrea, Lloyd-Evans, Emyr, Bembi, Bruno, Porter, Forbes D
Published in Annual review of genomics and human genetics (01.01.2014)
Published in Annual review of genomics and human genetics (01.01.2014)
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Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
Porter, Forbes D, Scherrer, David E, Lanier, Michael H, Langmade, S Joshua, Molugu, Vasumathi, Gale, Sarah E, Olzeski, Dana, Sidhu, Rohini, Dietzen, Dennis J, Fu, Rao, Wassif, Christopher A, Yanjanin, Nicole M, Marso, Steven P, House, John, Vite, Charles, Schaffer, Jean E, Ory, Daniel S
Published in Science translational medicine (03.11.2010)
Published in Science translational medicine (03.11.2010)
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Journal Article
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Jiang, Xuntian, Sidhu, Rohini, Mydock-McGrane, Laurel, Hsu, Fong-Fu, Covey, Douglas F, Scherrer, David E, Earley, Brian, Gale, Sarah E, Farhat, Nicole Y, Porter, Forbes D, Dietzen, Dennis J, Orsini, Joseph J, Berry-Kravis, Elizabeth, Zhang, Xiaokui, Reunert, Janice, Marquardt, Thorsten, Runz, Heiko, Giugliani, Roberto, Schaffer, Jean E, Ory, Daniel S
Published in Science translational medicine (04.05.2016)
Published in Science translational medicine (04.05.2016)
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Journal Article
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella
Cougnoux, Antony, Yerger, Julia C, Fellmeth, Mason, Serra-Vinardell, Jenny, Martin, Kyle, Navid, Fatemeh, Iben, James, Wassif, Christopher A, Cawley, Niamh X, Porter, Forbes D
Published in International journal of molecular sciences (28.07.2020)
Published in International journal of molecular sciences (28.07.2020)
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Journal Article
A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid
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
Published in Journal of lipid research (01.06.2015)
Published in Journal of lipid research (01.06.2015)
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Journal Article
Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1
Farhat, Nicole Y, Alexander, Derek, McKee, Kyli, Iben, James, Rodriguez-Gil, Jorge L, Wassif, Christopher A, Cawley, Niamh X, Balch, William E, Porter, Forbes D
Published in International journal of molecular sciences (01.04.2024)
Published in International journal of molecular sciences (01.04.2024)
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Journal Article
FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts
Newton, Jason, Hait, Nitai C, Maceyka, Michael, Colaco, Alexandria, Maczis, Melissa, Wassif, Christopher A, Cougnoux, Antony, Porter, Forbes D, Milstien, Sheldon, Platt, Nicholas, Platt, Frances M, Spiegel, Sarah
Published in The FASEB journal (01.04.2017)
Published in The FASEB journal (01.04.2017)
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Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history
Bianconi, Simona E., Hammond, Dylan I., Farhat, Nicole Y., Dang Do, An, Jenkins, Kisha, Cougnoux, Antony, Martin, Kyle, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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