Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome
Lanaspa, Miguel A., Ishimoto, Takuji, Li, Nanxing, Cicerchi, Christina, Orlicky, David J., Ruzycki, Philip, Rivard, Christopher, Inaba, Shinichiro, Roncal-Jimenez, Carlos A., Bales, Elise S., Diggle, Christine P., Asipu, Aruna, Petrash, J. Mark, Kosugi, Tomoki, Maruyama, Shoichi, Sanchez-Lozada, Laura G., McManaman, James L., Bonthron, David T., Sautin, Yuri Y., Johnson, Richard J.
Published in Nature communications (10.09.2013)
Published in Nature communications (10.09.2013)
Get full text
Journal Article
Endogenous fructose production and fructokinase activation mediate renal injury in diabetic nephropathy
Lanaspa, Miguel A, Ishimoto, Takuji, Cicerchi, Christina, Tamura, Yoshifuru, Roncal-Jimenez, Carlos A, Chen, Wei, Tanabe, Katsuyuki, Andres-Hernando, Ana, Orlicky, David J, Finol, Esteban, Inaba, Shinichiro, Li, Nanxing, Rivard, Christopher J, Kosugi, Tomoki, Sanchez-Lozada, Laura G, Petrash, J Mark, Sautin, Yuri Y, Ejaz, A Ahsan, Kitagawa, Wataru, Garcia, Gabriela E, Bonthron, David T, Asipu, Aruna, Diggle, Christine P, Rodriguez-Iturbe, Bernardo, Nakagawa, Takahiko, Johnson, Richard J
Published in Journal of the American Society of Nephrology (01.11.2014)
Published in Journal of the American Society of Nephrology (01.11.2014)
Get full text
Journal Article
Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice
Ishimoto, Takuji, Lanaspa, Miguel A, Le, MyPhuong T, Garcia, Gabriela E, Diggle, Christine P, MacLean, Paul S, Jackman, Matthew R, Asipu, Aruna, Roncal-Jimenez, Carlos A, Kosugi, Tomoki, Rivard, Christopher J, Maruyama, Shoichi, Rodriguez-Iturbe, Bernardo, Sánchez-Lozada, Laura G, Bonthron, David T, Sautin, Yuri Y, Johnson, Richard J
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (13.03.2012)
Get full text
Journal Article
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies
Chang, Leon, Motley, Rebecca, Daly, Catherine L, Diggle, Christine P, Hopkins, Philip M, Shaw, Marie-Anne
Published in International journal of molecular sciences (01.03.2024)
Published in International journal of molecular sciences (01.03.2024)
Get full text
Journal Article
High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase
Ishimoto, Takuji, Lanaspa, Miguel A., Rivard, Christopher J., Roncal‐Jimenez, Carlos A., Orlicky, David J., Cicerchi, Christina, McMahan, Rachel H., Abdelmalek, Manal F., Rosen, Hugo R., Jackman, Matthew R., MacLean, Paul S., Diggle, Christine P., Asipu, Aruna, Inaba, Shinichiro, Kosugi, Tomoki, Sato, Waichi, Maruyama, Shoichi, Sánchez‐Lozada, Laura G., Sautin, Yuri Y., Hill, James O., Bonthron, David T., Johnson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.11.2013)
Published in Hepatology (Baltimore, Md.) (01.11.2013)
Get full text
Journal Article
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development
Diggle, Christine P, Martinez-Garay, Isabel, Molnar, Zoltan, Brinkworth, Martin H, White, Ed, Fowler, Ewan, Hughes, Ruth, Hayward, Bruce E, Carr, Ian M, Watson, Christopher M, Crinnion, Laura, Asipu, Aruna, Woodman, Ben, Coletta, P Louise, Markham, Alexander F, Dear, T Neil, Bonthron, David T, Peckham, Michelle, Morrison, Ewan E, Sheridan, Eamonn
Published in PloS one (07.04.2017)
Published in PloS one (07.04.2017)
Get full text
Journal Article
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia
Chang, Leon, Liu, Xiaochen, Diggle, Christine P., Boyle, John P., Hopkins, Philip M., Shaw, Marie-Anne, Allen, Paul D.
Published in The Journal of biological chemistry (06.11.2020)
Published in The Journal of biological chemistry (06.11.2020)
Get full text
Journal Article
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
Get full text
Journal Article
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke
Yamazawa, Toshiko, Kobayashi, Takuya, Kurebayashi, Nagomi, Konishi, Masato, Noguchi, Satoru, Inoue, Takayoshi, Inoue, Yukiko U., Nishino, Ichizo, Mori, Shuichi, Iinuma, Hiroto, Manaka, Noriaki, Kagechika, Hiroyuki, Uryash, Arkady, Adams, Jose, Lopez, Jose R., Liu, Xiaochen, Diggle, Christine, Allen, Paul D., Kakizawa, Sho, Ikeda, Keigo, Lin, Bangzhong, Ikemi, Yui, Nunomura, Kazuto, Nakagawa, Shinsaku, Sakurai, Takashi, Murayama, Takashi
Published in Nature communications (13.07.2021)
Published in Nature communications (13.07.2021)
Get full text
Journal Article
Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy
Bonthron, David T, Uppal, Sandeep, Diggle, Christine P, Carr, Ian M, Fishwick, Colin W G, Ahmed, Mushtaq, Ibrahim, Gamal H, Helliwell, Philip S, Latos-Biele ska, Anna, Phillips, Simon E V, Markham, Alexander F, Bennett, Christopher P
Published in Nature genetics (01.06.2008)
Published in Nature genetics (01.06.2008)
Get full text
Journal Article
Ketohexokinase: Expression and Localization of the Principal Fructose-metabolizing Enzyme
Diggle, Christine P, Shires, Michael, Leitch, Derek, Brooke, David, Carr, Ian M, Markham, Alex F, Hayward, Bruce E, Asipu, Aruna, Bonthron, David T
Published in The journal of histochemistry and cytochemistry (01.08.2009)
Published in The journal of histochemistry and cytochemistry (01.08.2009)
Get full text
Journal Article
Developing Hollow-Channel Gold Nanoflowers as Trimodal Intracellular Nanoprobes
Ye, Sunjie, Wheeler, May C, McLaughlan, James R, Tamang, Abiral, Diggle, Christine P, Cespedes, Oscar, Markham, Alex F, Coletta, P Louise, Evans, Stephen D
Published in International journal of molecular sciences (08.08.2018)
Published in International journal of molecular sciences (08.08.2018)
Get full text
Journal Article
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
Get full text
Journal Article
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Diggle, Christine P, Moore, Daniel J, Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R, Gautier, Philippe, Yeyati, Patricia L, Bonthron, David T, Carr, Ian M, Hayward, Bruce, Markham, Alexander F, Hope, Jilly E, von Kriegsheim, Alex, Mitchison, Hannah M, Jackson, Ian J, Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P, Mill, Pleasantine
Published in PLoS genetics (01.09.2014)
Published in PLoS genetics (01.09.2014)
Get full text
Journal Article
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
Diggle, Christine P., Sukoff Rizzo, Stacey J., Popiolek, Michael, Hinttala, Reetta, Schülke, Jan-Philip, Kurian, Manju A., Carr, Ian M., Markham, Alexander F., Bonthron, David T., Watson, Christopher, Sharif, Saghira Malik, Reinhart, Veronica, James, Larry C., Vanase-Frawley, Michelle A., Charych, Erik, Allen, Melanie, Harms, John, Schmidt, Christopher J., Ng, Joanne, Pysden, Karen, Strick, Christine, Vieira, Päivi, Mankinen, Katariina, Kokkonen, Hannaleena, Kallioinen, Matti, Sormunen, Raija, Rinne, Juha O., Johansson, Jarkko, Alakurtti, Kati, Huilaja, Laura, Hurskainen, Tiina, Tasanen, Kaisa, Anttila, Eija, Marques, Tiago Reis, Howes, Oliver, Politis, Marius, Fahiminiya, Somayyeh, Nguyen, Khanh Q., Majewski, Jacek, Uusimaa, Johanna, Sheridan, Eamonn, Brandon, Nicholas J.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
Get full text
Journal Article
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
Logan, Clare V, Lucke, Barbara, Pottinger, Caroline, Abdelhamed, Zakia A, Parry, David A, Szymanska, Katarzyna, Diggle, Christine P, van Riesen, Anne, Morgan, Joanne E, Markham, Grace, Ellis, Ian, Manzur, Adnan Y, Markham, Alexander F, Shires, Mike, Helliwell, Tim, Scoto, Mariacristina, Hübner, Christoph, Bonthron, David T, Taylor, Graham R, Sheridan, Eamonn, Muntoni, Francesco, Carr, Ian M, Schuelke, Markus, Johnson, Colin A
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
Get full text
Journal Article
Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment
Giancane, Gabriella, Diggle, Christine P, Legger, Elizabeth G, Tekstra, Janneke, Prakken, Berent, Brenkman, Arjan B, Carr, Ian M, Markham, Alexander F, Bonthron, David T, Wulffraat, Nico
Published in Journal of rheumatology (01.11.2015)
Published in Journal of rheumatology (01.11.2015)
Get more information
Journal Article
Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface
Watson, Christopher M., Crinnion, Laura A., Morgan, Joanne E., Harrison, Sally M., Diggle, Christine P., Adlard, Julian, Lindsay, Helen A., Camm, Nick, Charlton, Ruth, Sheridan, Eamonn, Bonthron, David T., Taylor, Graham R., Carr, Ian M.
Published in Human mutation (01.04.2014)
Published in Human mutation (01.04.2014)
Get full text
Journal Article
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, Christine P., Parry, David A., Logan, Clare V., Laissue, Paul, Rivera, Carolina, Restrepo, Carlos Martín, Fonseca, Dora J., Morgan, Joanne E., Allanore, Yannick, Fontenay, Michaela, Wipff, Julien, Varret, Mathilde, Gibault, Laure, Dalantaeva, Nadezhda, Korbonits, Márta, Zhou, Bowen, Yuan, Gang, Harifi, Ghita, Cefle, Kivanc, Palanduz, Sukru, Akoglu, Hadim, Zwijnenburg, Petra J., Lichtenbelt, Klaske D., Aubry-Rozier, Bérengère, Superti-Furga, Andrea, Dallapiccola, Bruno, Accadia, Maria, Brancati, Francesco, Sheridan, Eamonn G., Taylor, Graham R., Carr, Ian M., Johnson, Colin A., Markham, Alexander F., Bonthron, David T.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
Get full text
Journal Article