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1.

Current methods to analyze lysosome morphology, positioning, motility and function.

Barral, Duarte C; Staiano, Leopoldo; Guimas Almeida, Cláudia; Cutler, Dan F; Eden, Emily R; Futter, Clare E; Galione, Antony; Marques, André R A; Medina, Diego Luis; Napolitano, Gennaro; Settembre, Carmine; Vieira, Otília V; Aerts, Johannes M F G; Atakpa-Adaji, Peace; Bruno, Gemma; Capuozzo, Antonella; De Leonibus, Elvira; Di Malta, Chiara; Escrevente, Cristina; Esposito, Alessandra; Grumati, Paolo; Hall, Michael J; Teodoro, Rita O; Lopes, Susana S; Luzio, J Paul; Monfregola, Jlenia; Montefusco, Sandro; Platt, Frances M; Polishchuck, Roman; De Risi, Maria; Sambri, Irene; Soldati, Chiara; Seabra, Miguel C.

Traffic; 23(5): 238-269, 2022 05.

Artículo en Inglés | MEDLINE | ID: mdl-35343629

2.

NPC1 plays a role in the trafficking of specific cargo to melanosomes.

Rus, Alina Adriana; Militaru, Ioana V; Popa, Ioana; Munteanu, Cristian V A; Sima, Livia Elena; Platt, Nick; Platt, Frances M; Petrescu, Ètefana M.

J Biol Chem; 299(8): 105024, 2023 08.

Artículo en Inglés | MEDLINE | ID: mdl-37423302

3.

Cholera intoxication of human enteroids reveals interplay between decoy and functional glycoconjugate ligands.

Singla, Akshi; Boucher, Andrew; Wallom, Kerri-Lee; Lebens, Michael; Kohler, Jennifer J; Platt, Frances M; Yrlid, Ulf.

Glycobiology; 33(10): 801-816, 2023 10 30.

Artículo en Inglés | MEDLINE | ID: mdl-37622990

4.

Transcriptome of HPßCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Rodriguez-Gil, Jorge L; Baxter, Laura L; Watkins-Chow, Dawn E; Johnson, Nicholas L; Davidson, Cristin D; Carlson, Steven R; Incao, Arturo A; Wallom, Kerri L; Farhat, Nicole Y; Platt, Frances M; Dale, Ryan K; Porter, Forbes D; Pavan, William J.

Hum Mol Genet; 30(24): 2456-2468, 2021 11 30.

Artículo en Inglés | MEDLINE | ID: mdl-34296265

5.

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.

Platt, Frances M.

Biochem Soc Trans; 51(5): 1777-1787, 2023 10 31.

Artículo en Inglés | MEDLINE | ID: mdl-37844193

6.

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.

Mol Genet Metab; 138(2): 107508, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36709532

7.

A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and Glycosphingolipids.

Durán, Anyelo; Priestman, David A; Las Heras, Macarena; Rebolledo-Jaramillo, Boris; Olguín, Valeria; Calderón, Juan F; Zanlungo, Silvana; Gutiérrez, Jaime; Platt, Frances M; Klein, Andrés D.

Int J Mol Sci; 24(5)2023 Mar 03.

Artículo en Inglés | MEDLINE | ID: mdl-36902345

8.

Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.

Massaro, Giulia; Hughes, Michael P; Whaler, Sammie M; Wallom, Kerri-Lee; Priestman, David A; Platt, Frances M; Waddington, Simon N; Rahim, Ahad A.

Hum Mol Genet; 29(12): 1933-1949, 2020 07 29.

Artículo en Inglés | MEDLINE | ID: mdl-31919491

9.

Glycosphingolipid metabolism and its role in ageing and Parkinson's disease.

Wallom, Kerri-Lee; Fernández-Suárez, María E; Priestman, David A; Te Vruchte, Danielle; Huebecker, Mylene; Hallett, Penelope J; Isacson, Ole; Platt, Frances M.

Glycoconj J; 39(1): 39-53, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34757540

10.

TLR9-mediated dendritic cell activation uncovers mammalian ganglioside species with specific ceramide backbones that activate invariant natural killer T cells.

Paget, Christophe; Deng, Shenglou; Soulard, Daphnée; Priestman, David A; Speca, Silvia; von Gerichten, Johanna; Speak, Anneliese O; Saroha, Ashish; Pewzner-Jung, Yael; Futerman, Anthony H; Mallevaey, Thierry; Faveeuw, Christelle; Gu, Xiaobo; Platt, Frances M; Sandhoff, Roger; Trottein, François.

PLoS Biol; 17(3): e3000169, 2019 03.

Artículo en Inglés | MEDLINE | ID: mdl-30822302

11.

Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells.

Bedard, Melissa; Shrestha, Dilip; Priestman, David A; Wang, Yuting; Schneider, Falk; Matute, Juan D; Iyer, Shankar S; Gileadi, Uzi; Prota, Gennaro; Kandasamy, Matheswaran; Veerapen, Natacha; Besra, Gurdyal; Fritzsche, Marco; Zeissig, Sebastian; Shevchenko, Andrej; Christianson, John C; Platt, Frances M; Eggeling, Christian; Blumberg, Richard S; Salio, Mariolina; Cerundolo, Vincenzo.

Proc Natl Acad Sci U S A; 116(47): 23671-23681, 2019 11 19.

Artículo en Inglés | MEDLINE | ID: mdl-31690657

12.

Drug-induced increase in lysobisphosphatidic acid reduces the cholesterol overload in Niemann-Pick type C cells and mice.

Moreau, Dimitri; Vacca, Fabrizio; Vossio, Stefania; Scott, Cameron; Colaco, Alexandria; Paz Montoya, Jonathan; Ferguson, Charles; Damme, Markus; Moniatte, Marc; Parton, Robert G; Platt, Frances M; Gruenberg, Jean.

EMBO Rep; 20(7): e47055, 2019 07.

Artículo en Inglés | MEDLINE | ID: mdl-31267706

13.

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease.

Hughes, Michael P; Smith, Dave A; Morris, Lauren; Fletcher, Claire; Colaco, Alexandria; Huebecker, Mylene; Tordo, Julie; Palomar, Nuria; Massaro, Giulia; Henckaerts, Els; Waddington, Simon N; Platt, Frances M; Rahim, Ahad A.

Hum Mol Genet; 27(17): 3079-3098, 2018 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-29878115

14.

GM1 ganglioside-independent intoxication by Cholera toxin.

Cervin, Jakob; Wands, Amberlyn M; Casselbrant, Anna; Wu, Han; Krishnamurthy, Soumya; Cvjetkovic, Aleksander; Estelius, Johanna; Dedic, Benjamin; Sethi, Anirudh; Wallom, Kerri-Lee; Riise, Rebecca; Bäckström, Malin; Wallenius, Ville; Platt, Frances M; Lebens, Michael; Teneberg, Susann; Fändriks, Lars; Kohler, Jennifer J; Yrlid, Ulf.

PLoS Pathog; 14(2): e1006862, 2018 02.

Artículo en Inglés | MEDLINE | ID: mdl-29432456

15.

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

Colaco, Alexandria; Kaya, Ecem; Adriaenssens, Elias; Davis, Lianne C; Zampieri, Stefania; Fernández-Suárez, María E; Tan, Chong Y; Deegan, Patrick B; Porter, Forbes D; Galione, Antony; Bembi, Bruno; Dardis, Andrea; Platt, Frances M.

J Inherit Metab Dis; 43(3): 574-585, 2020 05.

Artículo en Inglés | MEDLINE | ID: mdl-31707734

16.

Sphingolipid lysosomal storage disorders.

Platt, Frances M.

Nature; 510(7503): 68-75, 2014 Jun 05.

Artículo en Inglés | MEDLINE | ID: mdl-24899306

17.

Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives.

Percival, Benita Claire; Gibson, Miles; Wilson, Philippe B; Platt, Frances M; Grootveld, Martin.

Int J Mol Sci; 21(7)2020 Apr 05.

Artículo en Inglés | MEDLINE | ID: mdl-32260582

18.

Expression of Ca²âº-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells.

Ruas, Margarida; Davis, Lianne C; Chen, Cheng-Chang; Morgan, Anthony J; Chuang, Kai-Ting; Walseth, Timothy F; Grimm, Christian; Garnham, Clive; Powell, Trevor; Platt, Nick; Platt, Frances M; Biel, Martin; Wahl-Schott, Christian; Parrington, John; Galione, Antony.

EMBO J; 34(13): 1743-58, 2015 Jul 02.

Artículo en Inglés | MEDLINE | ID: mdl-25872774

19.

Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi.

D'Angelo, Giovanni; Uemura, Takefumi; Chuang, Chia-Chen; Polishchuk, Elena; Santoro, Michele; Ohvo-Rekilä, Henna; Sato, Takashi; Di Tullio, Giuseppe; Varriale, Antonio; D'Auria, Sabato; Daniele, Tiziana; Capuani, Fabrizio; Johannes, Ludger; Mattjus, Peter; Monti, Maria; Pucci, Piero; Williams, Roger L; Burke, John E; Platt, Frances M; Harada, Akihiro; De Matteis, Maria Antonietta.

Nature; 501(7465): 116-20, 2013 Sep 05.

Artículo en Inglés | MEDLINE | ID: mdl-23913272

20.

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.

FASEB J; 31(4): 1719-1730, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-28082351

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