Defective platelet function in Niemann‐Pick disease type C1

Authors: Chen, Oscar C. W., Colaco, Alexandria, Davis, Lianne C., Kiskin, Fedir N., Farhat, Nicole Y., Speak, Anneliese O., Smith, David A., Morris, Lauren, Eden, Emily, Tynan, Patricia, Churchill, Grant C., Galione, Antony, Porter, Forbes D., Platt, Frances M.

Source: JIMD reports. 56(1):46-57

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100109326429.0x000001&indx=1&recIds=ETOCvdc_100109326429.0x000001

High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation

Authors: Abeler-Dörner, Lucie, Laing, Adam G., Lorenc, Anna, Ushakov, Dmitry S., Clare, Simon, Speak, Anneliese O., Duque-Correa, Maria A., White, Jacqueline K., Ramirez-Solis, Ramiro, Saran, Namita, Bull, Katherine R., Morón, Belén, Iwasaki, Jua, Barton, Philippa R., Caetano, Susana, Hng, Keng I., Cambridge, Emma, Forman, Simon, Crockford, Tanya L., Griffiths, Mark, Kane, Leanne, Harcourt, Katherine, Brandt, Cordelia, Notley, George, Babalola, Kolawole O., Warren, Jonathan, Mason, Jeremy C., Meeniga, Amrutha, Karp, Natasha A., Melvin, David, Cawthorne, Eleanor, Weinrick, Brian, Rahim, Albina, Drissler, Sibyl, Meskas, Justin, Yue, Alice, Lux, Markus, Song-Zhao, George X., Chan, Anna, Ballesteros Reviriego, Carmen, Abeler, Johannes, Wilson, Heather, Przemska-Kosicka, Agnieszka, Edmans, Matthew, Strevens, Natasha, Pasztorek, Markus, Meehan, Terrence F., Powrie, Fiona, Brinkman, Ryan, Dougan, Gordon, Jacobs, William, Lloyd, Clare M., Cornall, Richard J., Maloy, Kevin J., Grencis, Richard K., Griffiths, Gillian M., Adams, David J., Hayday, Adrian C.

Source: Nature immunology. 21(1):86-100

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100193494124.0x000001&indx=1&recIds=ETOCvdc_100193494124.0x000001

The AMP-activated protein kinase beta 1 subunit modulates erythrocyte integrity

Authors: Cambridge, Emma L., McIntyre, Zoe, Clare, Simon, Arends, Mark J., Goulding, David, Isherwood, Christopher, Caetano, Susana S., Reviriego, Carmen Ballesteros, Swiatkowska, Agnieszka, Kane, Leanne, Harcourt, Katherine, Adams, David J., White, Jacqueline K., Speak, Anneliese O.

Source: In Experimental Hematology January 2017 45:64-68

Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice

Authors: Guerrero, Jose A. ^*, Bennett, Cavan, van der Weyden, Louise, McKinney, Harriet, Chin, Melody, Nurden, Paquita, McIntyre, Zoe, Cambridge, Emma L., Estabel, Jeanne, Wardle-Jones, Hannah, Speak, Anneliese O., Erber, Wendy N., Rendon, Augusto, Ouwehand, Willem H., Ghevaert, Cedric ^*

Source: In Blood 4 December 2014 124(24):3624-3635

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1

Authors: Speak, Anneliese O., te Vruchte, Danielle, Davis, Lianne C., Morgan, Anthony J., Smith, David A., Yanjanin, Nicole M., Simmons, Louise, Hartung, Ralf, Runz, Heiko, Mengel, Eugen, Beck, Michael, Imrie, Jackie, Jacklin, Elizabeth, Wraith, James E., Hendriksz, Christian, Lachmann, Robin, Cognet, Celine, Sidhu, Rohini, Fujiwara, Hideji, Ory, Daniel S., Galione, Antony, Porter, Forbes D., Vivier, Eric, Platt, Frances M.

Source: In Blood 2 January 2014 123(1):51-60

Disruption of the potassium channel regulatory subunit KCNE2 causes iron-deficient anemia

Authors: Salsbury, Grace, Cambridge, Emma L., McIntyre, Zoe, Arends, Mark J., Karp, Natasha A., Isherwood, Christopher, Shannon, Carl, Hooks, Yvette, Ramirez-Solis, Ramiro, Adams, David J., White, Jacqueline K., Speak, Anneliese O.

Source: In Experimental Hematology July 2014

Synthetic lethality between PAXX and XLF in mammalian development

Authors: Balmus, Gabriel, Barros, Ana C., Wijnhoven, Paul W. G., Lescale, Chloé, Hasse, Hélène Lenden, Boroviak, Katharina, le Sage, Carlos, Doe, Brendan, Speak, Anneliese O., Galli, Antonella

Source: Genes & development. 30(19):2152-2157

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN608609931&indx=1&recIds=ETOCRN608609931

Programmed cell death ligand 2 regulates TH9 differentiation and induction of chronic airway hyperreactivity

Authors: Kerzerho, Jerome, Maazi, Hadi, Speak, Anneliese O., Szely, Natacha, Lombardi, Vincent, Khoo, Bryant, Geryak, Stacey, Lam, Jonathan, Soroosh, Pejman, Van Snick, Jacques, Akbari, Omid

Source: In The Journal of Allergy and Clinical Immunology April 2013 131(4):1048-1057

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

Authors: 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. ^{1, *}

Source: In Journal of Lipid Research July 2011 52(7):1435-1445

Modulation of Human Natural Killer T Cell Ligands on TLR-Mediated Antigen-Presenting Cell Activation

Authors: Salio, Mariolina, Speak, Anneliese O., Shepherd, Dawn, Polzella, Paolo, Illarionov, Petr A., Veerapen, Natacha, Besra, Gurdyal S., Platt, Frances M., Cerundolo, Vincenzo

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Dec . 104(51), 20490-20495.

Access URL: https://www.jstor.org/stable/25450919

Implications for Invariant Natural Killer T Cell Ligands Due to the Restricted Presence of Isoglobotrihexosylceramide in Mammals

Authors: Speak, Anneliese O., Salio, Mariolina, Neville, David C. A., Fontaine, Josette, Priestman, David A., Platt, Nick, Heare, Tanya, Butters, Terry D., Dwek, Raymond A., Trottein, Francois, Exley, Mark A., Cerundolo, Vincenzo, Platt, Frances M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Apr 01. 104(14), 5971-5976.

Access URL: https://www.jstor.org/stable/25427311

Normal Development and Function of Invariant Natural Killer T Cells in Mice with Isoglobotrihexosylceramide (iGb3) Deficiency

Authors: Porubsky, Stefan, Speak, Anneliese O., Luckow, Bruno, Cerundolo, Vincenzo, Platt, Frances M., Gröne, Hermann-Josef

Source: Proceedings of the National Academy of Sciences of the United States of America, 2007 Apr 01. 104(14), 5977-5982.

Access URL: https://www.jstor.org/stable/25427312

EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease

Authors: Thomas, David C., Charbonnier, Louis-Marie, Schejtman, Andrea, Aldhekri, Hasan, Coomber, Eve L., Dufficy, Elizabeth R., Beenken, Anne E., Lee, James C., Clare, Simon, Speak, Anneliese O., Thrasher, Adrian J., Santilli, Giorgia, Al-Mousa, Hamoud, Alkuraya, Fowzan S., Chatila, Talal A., Smith, Kenneth G.C.

Source: Journal of allergy and clinical immunology. 143(2):782-785.e1

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100075857108.0x000001&indx=1&recIds=ETOCvdc_100075857108.0x000001

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

Authors: Elliot-Smith, Elena, Speak, Anneliese O., Lloyd-Evans, Emyr, Smith, David A., Spoel, Aarnoud C. van der, Jeyakumar, Mylvaganam, Butters, Terry D., Dwek, Raymond A., d’Azzo, Alessandra, Platt, Frances M.

Source: In Molecular Genetics and Metabolism June 2008 94(2):204-211

Glycosphingolipid depletion in PC12 cells using iminosugars protects neuronal membranes from anti-ganglioside antibody mediated injury

Authors: Townson, Kate H., Speak, Anneliese O., Greenshields, Kay N., Goodyear, Carl S., Willison, Hugh J., Platt, Frances M.

Source: In Journal of Neuroimmunology 2008 203(1):33-38

Activation of Invariant NKT Cells by Toll-like Receptor 9-Stimulated Dendritic Cells Requires Type I Interferon and Charged Glycosphingolipids

Authors: Paget, Christophe, Mallevaey, Thierry, Speak, Anneliese O., Torres, David, Fontaine, Josette, Sheehan, Kathleen C.F., Capron, Monique, Ryffel, Bernhard, Faveeuw, Christelle, Leite de Moraes, Maria, Platt, Frances, Trottein, François

Source: In Immunity 2007 27(4):597-609

Defining the early stages of intestinal colonisation by whipworms.

Authors: Duque-Correa, María A., Goulding, David, Rodgers, Faye H., Gillis, J. Andrew, Cormie, Claire, Rawlinson, Kate A., Bancroft, Allison J., Bennett, Hayley M., Lotkowska, Magda E., Reid, Adam J., Speak, Anneliese O., Scott, Paul, Redshaw, Nicholas, Tolley, Charlotte, McCarthy, Catherine, Brandt, Cordelia, Sharpe, Catherine, Ridley, Caroline, Moya, Judit Gali, Carneiro, Claudia M.

Source: Nature Communications; 10/23/2022, Vol. 13 Issue 1, p1-15, 15p

Subject Terms: WHIPWORMS, LARGE intestine, INTESTINES, RNA sequencing, EPITHELIAL cells

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

Authors: Paget, Christophe^1,2,3,4,5,6, christophe.paget@inserm.fr, Deng, Shenglou^7,8, Soulard, Daphnée^1,2,3,4,5, Priestman, David A.⁹, Speca, Silvia¹⁰, von Gerichten, Johanna^11,12, Speak, Anneliese O.⁹, Saroha, Ashish¹³, Pewzner-Jung, Yael¹³, Futerman, Anthony H.¹³, Mallevaey, Thierry^14,15, Faveeuw, Christelle^1,2,3,4,5, Gu, Xiaobo⁷, Platt, Frances M.¹⁰, Sandhoff, Roger¹¹, Trottein, François^1,2,3,4,5

Source: PLoS Biology; 3/1/2019, Vol. 17 Issue 3, p1-26, 26p, 7 Graphs

Impact of Temporal Variation on Design and Analysis of Mouse Knockout Phenotyping Studies.

Authors: Karp, Natasha A.¹, Speak, Anneliese O.¹, White, Jacqueline K.¹ nk3@sanger.ac.uk, Adams, David J.¹, Hrabé de Angelis, Martin^2,3,4, Hérault, Yann⁵, Mott, Richard F.⁶

Source: PLoS ONE. Oct2014, Vol. 9 Issue 10, p1-10. 10p.

Subject Terms: *ANIMAL models in research, *MICE, *ANIMAL genetics, *PHENOTYPES, *GENETIC mutation

CRISPR activation screen in mice identifies novel membrane proteins enhancing pulmonary metastatic colonisation.

Authors: van der Weyden, Louise, Harle, Victoria, Turner, Gemma, Offord, Victoria, Iyer, Vivek, Droop, Alastair, Swiatkowska, Agnieszka, Rabbie, Roy, Campbell, Andrew D., Sansom, Owen J., Pardo, Mercedes, Choudhary, Jyoti S., Ferreira, Ingrid, Tullett, Mark, Arends, Mark J., Speak, Anneliese O., Adams, David J.

Source: Communications Biology; 3/23/2021, Vol. 4 Issue 1, p1-12, 12p

Subject Terms: RISK factors of skin cancer, CANCER-related mortality, CRISPRS, MEMBRANE proteins, DRUG target, MELANOMA