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Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells
Author / Creator:Li, Jian ; Deffieu, Maika S. ; Lee, Peter L. ; Saha, Piyali ; Pfeffer, Suzanne R.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2015-12, Vol.112 (48), p.14876-14881
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Saturation variant interpretation using CRISPR prime editing
Author / Creator:Erwood, Steven ; Bily, Teija M. I. ; Lequyer, Jason ; Yan, Joyce ; Gulati, Nitya ; Brewer, Reid A. ; Zhou, Liangchi ; Pelletier, Laurence ; Ivakine, Evgueni A. ; Cohn, Ronald D.
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2022-06, Vol.40 (6), p.885-895
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Lysosomal cholesterol activates mTORC1 via an SLC38A9–Niemann-Pick C1 signaling complex
Author / Creator:Castellano, Brian M. ; Thelen, Ashley M. ; Moldavski, Ofer ; Feltes, McKenna ; van der Welle, Reini E. N. ; Mydock-McGrane, Laurel ; Jiang, Xuntian ; van Eijkeren, Robert J ; Davis, Oliver B. ; Louie, Sharon M. ; Perera, Rushika M. ; Covey, Douglas F. ; Nomura, Daniel K. ; Ory, Daniel S. ; Zoncu, Roberto
Publisher:United States: American Association for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 2017-03, Vol.355 (6331), p.1306-1311
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ER–lysosome contacts enable cholesterol sensing by mTORC1 and drive aberrant growth signalling in Niemann–Pick type C
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature cell biology, 2019-10, Vol.21 (10), p.1206-1218
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NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress
Author / Creator:Höglinger, D. ; Burgoyne, T. ; Sanchez-Heras, E. ; Hartwig, P. ; Colaco, A. ; Newton, J. ; Futter, C. E. ; Spiegel, S. ; Platt, F. M. ; Eden, E. R
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-09, Vol.10 (1), p.4276-14, Article 4276
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Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
Author / Creator: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
Publisher:England: Elsevier Ltd
Journal title:The Lancet (British edition), 2017-10, Vol.390 (10104), p.1758-1768
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mTORC1 activates SREBP-2 by suppressing cholesterol trafficking to lysosomes in mammalian cells
Author / Creator:Eid, Walaa ; Dauner, Kristin ; Courtney, Kevin C. ; Gagnon, AnneMarie ; Parks, Robin J. ; Sorisky, Alexander ; Zha, Xiaohui
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-07, Vol.114 (30), p.7999-8004
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Structures of human Patched and its complex with native palmitoylated sonic hedgehog
Author / Creator:Qi, Xiaofeng ; Schmiege, Philip ; Coutavas, Elias ; Wang, Jiawei ; Li, Xiaochun
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2018-08, Vol.560 (7716), p.128-132
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3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport
Author / Creator:Li, Xiaochun ; Lu, Feiran ; Trinh, Michael N. ; Schmiege, Philip ; Seemann, Joachim ; Wang, Jiawei ; Blobel, Günter
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-08, Vol.114 (34), p.9116-9121
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Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia
Author / Creator:Colombo, Alessio ; Dinkel, Lina ; Müller, Stephan A. ; Sebastian Monasor, Laura ; Schifferer, Martina ; Cantuti-Castelvetri, Ludovico ; König, Jasmin ; Vidatic, Lea ; Bremova-Ertl, Tatiana ; Lieberman, Andrew P. ; Hecimovic, Silva ; Simons, Mikael ; Lichtenthaler, Stefan F. ; Strupp, Michael ; Schneider, Susanne A. ; Tahirovic, Sabina
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-02, Vol.12 (1), p.1158-1158, Article 1158
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Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection
Author / Creator:Lu, Feiran ; Liang, Qiren ; Abi-Mosleh, Lina ; Das, Akash ; De Brabander, Jef K ; Goldstein, Joseph L ; Brown, Michael S
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2015-12, Vol.4
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IP₃R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease
Author / Creator:Tiscione, Scott A. ; Casas, Maria ; Horvath, Jonathan D. ; Lam, Vincent ; Hino, Keiko ; Ory, Daniel S. ; Santana, L. Fernando ; Simó, Sergi ; Dixon, Rose E. ; Dickson, Eamonn J.
Publisher:Washington: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2021-10, Vol.118 (40), p.1-12
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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
Author / Creator:Guatibonza Moreno, Pilar ; Pardo, Luba M ; Pereira, Catarina ; Schroeder, Sabine ; Vagiri, Deepthi ; Almeida, Ligia S ; Juaristi, Carlos ; Hosny, Heba ; Loh, Clarice C Y ; Leubauer, Anika ; Torres Morales, Galina ; Oppermann, Sebastian ; Iurașcu, Marius-Ionuț ; Fischer, Steffen ; Steinicke, Tara-Marisa ; Viceconte, Nikenza ; Cozma, Claudia ; Kandaswamy, Krishna Kumar ; Pinto Basto, Jorge ; Böttcher, Tobias ; Bauer, Peter ; Bertoli-Avella, Aida
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1108-1116
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Evolutionary insights into host–pathogen interactions from mammalian sequence data
Author / Creator:Sironi, Manuela ; Cagliani, Rachele ; Forni, Diego ; Clerici, Mario
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2015-04, Vol.16 (4), p.224-236
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Efferocytosis potentiates the expression of arachidonate 15-lipoxygenase (ALOX15) in alternatively activated human macrophages through LXR activation
Author / Creator:Snodgrass, Ryan G. ; Benatzy, Yvonne ; Schmid, Tobias ; Namgaladze, Dmitry ; Mainka, Malwina ; Schebb, Nils Helge ; Lütjohann, Dieter ; Brüne, Bernhard
Publisher:London: Nature Publishing Group UK
Journal title:Cell death and differentiation, 2021-04, Vol.28 (4), p.1301-1316
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Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases
Author / Creator:Flores-Dorantes, María Teresa ; Díaz-López, Yael Efren ; Gutiérrez-Aguilar, Ruth
Publisher:Switzerland: Frontiers Research Foundation
Journal title:Frontiers in neuroscience, 2020-08, Vol.14, p.863
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Ebola virus glycoprotein interacts with cholesterol to enhance membrane fusion and cell entry
Author / Creator:Lee, Jinwoo ; Kreutzberger, Alex J. B. ; Odongo, Laura ; Nelson, Elizabeth A. ; Nyenhuis, David A. ; Kiessling, Volker ; Liang, Binyong ; Cafiso, David S. ; White, Judith M. ; Tamm, Lukas K.
Publisher:New York: Nature Publishing Group US
Journal title:Nature structural & molecular biology, 2021-02, Vol.28 (2), p.181-189
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Structure of the Ebola virus envelope protein MPER/TM domain and its interaction with the fusion loop explains their fusion activity
Author / Creator:Lee, Jinwoo ; Nyenhuis, David A. ; Nelson, Elizabeth A. ; Cafiso, David S. ; White, Judith M. ; Tamm, Lukas K.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-09, Vol.114 (38), p.E7987-E7996
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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
Author / Creator:Schultz, Mark L. ; Krus, Kelsey L. ; Kaushik, Susmita ; Dang, Derek ; Chopra, Ravi ; Qi, Ling ; Shakkottai, Vikram G. ; Cuervo, Ana Maria ; Lieberman, Andrew P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-09, Vol.9 (1), p.3671-13, Article 3671
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Structural basis for itraconazole-mediated NPC1 inhibition
Author / Creator:Long, Tao ; Qi, Xiaofeng ; Hassan, Abdirahman ; Liang, Qiren ; De Brabander, Jef K. ; Li, Xiaochun
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-01, Vol.11 (1), p.152-152, Article 152
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Showing 1 to 20 of 464 results

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Glycosylation inhibition reduces cholesterol accumulation in NPC1 protein-deficient cells

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Saturation variant interpretation using CRISPR prime editing

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Lysosomal cholesterol activates mTORC1 via an SLC38A9–Niemann-Pick C1 signaling complex

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

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NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

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Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial

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mTORC1 activates SREBP-2 by suppressing cholesterol trafficking to lysosomes in mammalian cells

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Structures of human Patched and its complex with native palmitoylated sonic hedgehog

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3.3 Å structure of Niemann–Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport

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Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

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Identification of NPC1 as the target of U18666A, an inhibitor of lysosomal cholesterol export and Ebola infection

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IP₃R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease

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At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

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Evolutionary insights into host–pathogen interactions from mammalian sequence data

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Efferocytosis potentiates the expression of arachidonate 15-lipoxygenase (ALOX15) in alternatively activated human macrophages through LXR activation

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Environment and Gene Association With Obesity and Their Impact on Neurodegenerative and Neurodevelopmental Diseases

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Ebola virus glycoprotein interacts with cholesterol to enhance membrane fusion and cell entry

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Structure of the Ebola virus envelope protein MPER/TM domain and its interaction with the fusion loop explains their fusion activity

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Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD

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Structural basis for itraconazole-mediated NPC1 inhibition

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