Highly recruited brown adipose tissue does not in itself protect against obesity

Autor: Gabriella von Essen, Erik Lindsund, Elaina M. Maldonado, Petr Zouhar, Barbara Cannon, Jan Nedergaard

Publikováno v: Molecular Metabolism, Vol 76, Iss , Pp 101782- (2023)

Objective: The possibility to counteract the development of obesity in humans by recruiting brown or brite/beige adipose tissue (and thus UCP1) has attracted much attention. Here we examine if a diet that can activate diet-induced thermogenesis can e

Externí odkaz: https://doaj.org/article/3f0fda2ccbd2477c8f0df7d18f5fb857

Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases

Autor: Elaina M. Maldonado, Fatma Taha, Joyeeta Rahman, Shamima Rahman

Publikováno v: Frontiers in Genetics, Vol 10 (2019)

Primary mitochondrial diseases form one of the most common and severe groups of genetic disease, with a birth prevalence of at least 1 in 5000. These disorders are multi-genic and multi-phenotypic (even within the same gene defect) and span the entir

Externí odkaz: https://doaj.org/article/94d3607f02894fe880c0d835165a14fe

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease

Autor: Fatma Taha, Daniel Weghuber, Johannes A. Mayr, Johannes Spenger, Elaina M. Maldonado, Florence van den Broek, Wyatt W. Yue, Saskia B. Wortmann, Simon Heales, Zdenek Jaros, Brigitte Meunier, Lamia Mestek-Boukhibar, Shamima Rahman, James Davison, Emma Clement

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.256-263. ⟨10.1016/j.ajhg.2020.01.005⟩
Am. J. Hum. Genet. 106, 256-263 (2020)
Am J Hum Genet

International audience; We report an inborn error of metabolism caused by TKFC deficiency in two unrelated families. Rapid trio genome sequencing in family 1 and exome sequencing in family 2 excluded known genetic etiologies, and further variant anal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a704de9174a9612ac3e1dd7437d847f
https://hal.science/hal-02464288/document

Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases

Autor: Fatma Taha, Shamima Rahman, Joyeeta Rahman, Elaina M. Maldonado

Publikováno v: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics

Primary mitochondrial diseases form one of the most common and severe groups of genetic disease, with a birth prevalence of at least 1 in 5000. These disorders are multi-genic and multi-phenotypic (even within the same gene defect) and span the entir

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c4ac5e79cdb321973d8a8c6d283004
https://www.frontiersin.org/article/10.3389/fgene.2019.00019/full

Proteomic identification and characterization of hepatic glyoxalase 1 dysregulation in non-alcoholic fatty liver disease

Autor: John F. Dillon, Caroline A. Evans, Naila Rabbani, David Windridge, Michael H Miller, Mark E. Weeks, Huan Wang, Paul J. Thornalley, Bernard M. Corfe, Ciarán Fisher, Francisco J. Salguero, Elaina M. Maldonado, J. Bernadette Moore, Christos Spanos, Anil Dhawan, Ernesto Oviedo-Orta, Alberto Quaglia, Petchpailin Leenutaphong, Alexandra Bermudez-Fajardo, Emer Fitzpatrick

Publikováno v: Proteome Science
Proteome Science, Vol 16, Iss 1, Pp 1-16 (2018)

Background Non-alcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. However, its molecular pathogenesis is incompletely characterized and clinical biomarkers remain scarce. The aims of these experiments were to identify a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb9e80412c28ff626898a2272c265e97
https://surrey.eprints-hosting.org/845749/