Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Cristina Al‐Khalili‐Szigyarto"'
Autor:
Pietro Spitali, Kristina Hettne, Roula Tsonaka, Mohammed Charrout, Janneke van denBergen, Zaïda Koeks, Hermien E. Kan, Melissa T. Hooijmans, Andreas Roos, Volker Straub, Francesco Muntoni, Cristina Al‐Khalili‐Szigyarto, Marleen J.A. Koel‐Simmelink, Charlotte E. Teunissen, Hanns Lochmüller, Erik H. Niks, Annemieke Aartsma‐Rus
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 9, Iss 4, Pp 715-726 (2018)
Abstract Background Analysis of muscle biopsies allowed to characterize the pathophysiological changes of Duchenne and Becker muscular dystrophies (D/BMD) leading to the clinical phenotype. Muscle tissue is often investigated during interventional do
Externí odkaz:
https://doaj.org/article/0eb35a80d432451f8651ce90e2352016
Autor:
Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik Niks, Roula Tsonaka, Anja Persson, Annemieke Aartsma‐Rus, Peter Nilsson, Cristina Al‐Khalili Szigyarto, Pietro Spitali
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 2, Pp 505-517 (2020)
Abstract Background Duchenne muscular dystrophy (DMD) is a fatal disease for which no cure is available. Clinical trials have shown to be largely underpowered due to inter‐individual variability and noisy outcome measures. The availability of bioma
Externí odkaz:
https://doaj.org/article/279f86f1eb524b11a1cf2dcdaf841012
Autor:
Susan A. Kennedy, Mohamed-Ali Jarboui, Sriganesh Srihari, Cinzia Raso, Kenneth Bryan, Layal Dernayka, Theodosia Charitou, Manuel Bernal-Llinares, Carlos Herrera-Montavez, Aleksandar Krstic, David Matallanas, Max Kotlyar, Igor Jurisica, Jasna Curak, Victoria Wong, Igor Stagljar, Thierry LeBihan, Lisa Imrie, Priyanka Pillai, Miriam A. Lynn, Erik Fasterius, Cristina Al-Khalili Szigyarto, James Breen, Christina Kiel, Luis Serrano, Nora Rauch, Oleksii Rukhlenko, Boris N. Kholodenko, Luis F. Iglesias-Martinez, Colm J. Ryan, Ruth Pilkington, Patrizia Cammareri, Owen Sansom, Steven Shave, Manfred Auer, Nicola Horn, Franziska Klose, Marius Ueffing, Karsten Boldt, David J. Lynn, Walter Kolch
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Kras is often mutated in colorectal cancer but how this oncogenic mutation alters signalling pathways globally is undetermined. Here, the authors analyse how this mutation affects protein interaction networks and signal flow showing an extensive re
Externí odkaz:
https://doaj.org/article/9d3d9f430d2e481298f1f134583ff8b6
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients
Autor:
Rachele Rossi, Maria Sofia Falzarano, Hana Osman, Annarita Armaroli, Chiara Scotton, Paola Mantuano, Brigida Boccanegra, Ornella Cappellari, Elena Schwartz, Anton Yuryev, Eugenio Mercuri, Enrico Bertini, Adele D’Amico, Marina Mora, Camilla Johansson, Cristina Al-Khalili Szigyarto, Annamaria De Luca, Alessandra Ferlini
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Duchenne muscular dystrophy (DMD) is a rare genetic disease due to dystrophin gene mutations which cause progressive weakness and muscle wasting. Circadian rhythm coordinates biological processes with the 24-h cycle and it plays a key role in maintai
Externí odkaz:
https://doaj.org/article/f17cf37c06754d3eb9ffcb579995bb2b
Autor:
Fredrik Edfors, Andreas Hober, Klas Linderbäck, Gianluca Maddalo, Alireza Azimi, Åsa Sivertsson, Hanna Tegel, Sophia Hober, Cristina Al-Khalili Szigyarto, Linn Fagerberg, Kalle von Feilitzen, Per Oksvold, Cecilia Lindskog, Björn Forsström, Mathias Uhlen
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Five validation pillars have been proposed to verify the specificity of research antibodies. Here the authors screen 6,000 antibodies from the Human Protein Atlas with these methods to provide an antibody validation resource for providers and users.
Externí odkaz:
https://doaj.org/article/6c7d2dad78f143629130766c264377a4
Autor:
Rachele Rossi, Camilla Johansson, Wendy Heywood, Heloise Vinette, Gabriella Jensen, Hanna Tegel, Albert Jiménez-Requena, Silvia Torelli, Cristina Al-Khalili Szigyarto, Alessandra Ferlini
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5215
Duchenne muscular dystrophy (DMD) is a rare neuromuscular disease caused by pathogenic variations in the DMD gene. There is a need for robust DMD biomarkers for diagnostic screening and to aid therapy monitoring. Creatine kinase, to date, is the only
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a805aeb47714238ffefedd696a08193b
Autor:
Camilla Johansson, Helian Hunt, Mirko Signorelli, Fredrik Edfors, Andreas Hober, Anne-Sophie Svensson, Hanna Tegel, Björn Forstström, Annemieke Aartsma-Rus, Erik Niks, Pietro Spitali, Mathias Uhlén, Cristina Al-Khalili Szigyarto
Background: Molecular components in blood, like proteins, are used as biomarkers to reveal or predict disease states, guide clinical interventions and aid development of therapies. While multiplexing proteomics methods promote discovery of such bioma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cb672e9c3af49befb6244d885e65dea
https://doi.org/10.21203/rs.3.rs-2285032/v1
https://doi.org/10.21203/rs.3.rs-2285032/v1
Autor:
Erik Fasterius, Cinzia Raso, Susan Kennedy, Nora Rauch, Pär Lundin, Walter Kolch, Mathias Uhlén, Cristina Al-Khalili Szigyarto
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0171435 (2017)
We have developed a novel analysis method that can interrogate the authenticity of biological samples used for generation of transcriptome profiles in public data repositories. The method uses RNA sequencing information to reveal mutations in express
Externí odkaz:
https://doaj.org/article/2b0cc276c2964fb5bd1789f88c3d5de6
Autor:
Burcu Ayoglu, Amina Chaouch, Hanns Lochmüller, Luisa Politano, Enrico Bertini, Pietro Spitali, Monika Hiller, Eric H Niks, Francesca Gualandi, Fredrik Pontén, Kate Bushby, Annemieke Aartsma‐Rus, Elena Schwartz, Yannick Le Priol, Volker Straub, Mathias Uhlén, Sebahattin Cirak, Peter A C ‘t Hoen, Francesco Muntoni, Alessandra Ferlini, Jochen M Schwenk, Peter Nilsson, Cristina Al‐Khalili Szigyarto
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 7, Pp 918-936 (2014)
Abstract Despite the recent progress in the broad‐scaled analysis of proteins in body fluids, there is still a lack in protein profiling approaches for biomarkers of rare diseases. Scarcity of samples is the main obstacle hindering attempts to appl
Externí odkaz:
https://doaj.org/article/dd1a5f2e66db4ca7b3206add2c174f8d
Autor:
Diana Cepeda, Hwee‐Fang Ng, Hamid Reza Sharifi, Salah Mahmoudi, Vanessa Soto Cerrato, Erik Fredlund, Kristina Magnusson, Helén Nilsson, Alena Malyukova, Juha Rantala, Daniel Klevebring, Francesc Viñals, Nimesh Bhaskaran, Siti Mariam Zakaria, Aldwin Suryo Rahmanto, Stefan Grotegut, Michael Lund Nielsen, Cristina Al‐Khalili Szigyarto, Dahui Sun, Mikael Lerner, Sanjay Navani, Martin Widschwendter, Mathias Uhlén, Karin Jirström, Fredrik Pontén, James Wohlschlegel, Dan Grandér, Charles Spruck, Lars‐Gunnar Larsson, Olle Sangfelt
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 7, Pp 1067-1086 (2013)
Abstract SCF (Skp1/Cul1/F‐box) ubiquitin ligases act as master regulators of cellular homeostasis by targeting key proteins for ubiquitylation. Here, we identified a hitherto uncharacterized F‐box protein, FBXO28 that controls MYC‐dependent tra
Externí odkaz:
https://doaj.org/article/5062dd7638fb498c83728c328d552d33