Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

por Baruteau, Julien, Khalil, Youssef, Grunewald, Stephanie, Zancolli, Marta, Chakrapani, Anupam, Cleary, Maureen, Davison, James, Footitt, Emma, Waddington, Simon N., Gissen, Paul, Mills, Philippa
Publicado 2019

Deep mining of oxysterols and cholestenoic acids in human plasma and cerebrospinal fluid: Quantification using isotope dilution mass spectrometry

por Yutuc, Eylan, Dickson, Alison L., Pacciarini, Manuela, Griffiths, Lauren, Baker, Paul R.S., Connell, Lisa, Öhman, Anders, Forsgren, Lars, Trupp, Miles, Vilarinho, Sílvia, Khalil, Youssef, Clayton, Peter T., Sari, Sinan, Dalgic, Buket, Höflinger, Philip, Schöls, Ludger, Griffiths, William J., Wang, Yuqin
Publicado 2021

Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation

por Khalil, Youssef, Carrino, Sara, Lin, Fujun, Ferlin, Anna, Lad, Heena V., Mazzacuva, Francesca, Falcone, Sara, Rivers, Natalie, Banks, Gareth, Concas, Danilo, Aguilar, Carlos, Haynes, Andrew R., Blease, Andy, Nicol, Thomas, Al-Shawi, Raya, Heywood, Wendy, Potter, Paul, Mills, Kevin, Gale, Daniel P., Clayton, Peter T.
Publicado 2022

Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders

por Soria, Leandro R, Gurung, Sonam, De Sabbata, Giulia, Perocheau, Dany P, De Angelis, Angela, Bruno, Gemma, Polishchuk, Elena, Paris, Debora, Cuomo, Paola, Motta, Andrea, Orford, Michael, Khalil, Youssef, Eaton, Simon, Mills, Philippa B, Waddington, Simon N, Settembre, Carmine, Muro, Andrés F, Baruteau, Julien, Brunetti‐Pierri, Nicola
Publicado 2020

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

por Kiss, Robert S., Chicoine, Jarred, Khalil, Youssef, Sladek, Robert, Chen, He, Pisaturo, Alessandro, Martin, Cyril, Dale, Jessica D., Brudenell, Tegan A., Kamath, Archith, Kyei-Boahen, Jeffrey, Hafiane, Anouar, Daliah, Girija, Alecki, Célia, Hopes, Tayah S., Heier, Martin, Aligianis, Irene A., Lebrun, Jean-Jacques, Aspden, Julie, Paci, Emanuele, Kerksiek, Anja, Lütjohann, Dieter, Clayton, Peter, Wills, Jimi C., von Kriegsheim, Alex, Nilsson, Tommy, Sheridan, Eamonn, Handley, Mark T.
Publicado 2023

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis

por Kožich, Viktor, Schwahn, Bernd C, Sokolová, Jitka, Křížková, Michaela, Ditroi, Tamas, Krijt, Jakub, Khalil, Youssef, Křížek, Tomáš, Vaculíková-Fantlová, Tereza, Stibůrková, Blanka, Mills, Philippa, Clayton, Peter, Barvíková, Kristýna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, García-Cazorla, Ángeles, Haack, Tobias B, Honzík, Tomáš, Ješina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, René, Schwarz, Guenter, Nagy, Peter
Publicado 2022

PROJETO SENTINELA COVID-19: ESTUDO DE VIABILIDADE DA DETECÇÃO VIRAL EM ASSINTOMÁTICOS UTILIZANDO O TESTE POINT OF CARE PARA DETECÇÃO DO ANTÍGENO DO SARS-COV-2 E RESULTADOS EM MEIO...

por de Araújo, Evaldo Stanislau Affonso, Cortez, Andre Lazzeri, Lopes, Luciana Schmidt Gomes, de Souza, Alexandra Azevedo, Fragoso, Andréia Quitéria Mota, Molina, Isabella de Matos, Romão, Luana da Silva, Ferreira, Carolina Marques, Peres, João Canedo, Taniolo, Eliane Aparecida, Palasio, Raquel Gardini Sanches, Khalil, Youssef Mohamad, dos Santos Vilela, Gabriel Anthonio, Lourenço, Giovanna Alves, Mota, Lívia Maria da Silva, de Oliveira, Ludmila Aro, dos Santos, Thiago Cássio Fuzatti, Ueno, Ivaldo Isao, Silva, Anderson Stechhahn
Publicado 2022