Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Raul Perez Mato"'
Autor:
Marco L. Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P. Rodriguez, Margie Ream, Yanick J. Crow, Mari Mori
Publikováno v:
Leung, M L, Woodhull, W, Uggenti, C, Schord, S, Mato, R P, Rodriguez, D P, Ream, M, Crow, Y J & Mori, M 2023, ' Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome ', European journal of medical genetics, vol. 66, no. 4, pp. 104731 . https://doi.org/10.1016/j.ejmg.2023.104731
Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591d527246842213c7e9f718703dbb91
https://doi.org/10.1016/j.ejmg.2023.104731
https://doi.org/10.1016/j.ejmg.2023.104731
Autor:
Andrea Benzi, Markus Heine, Sonia Spinelli, Annalisa Salis, Anna Worthmann, Björn Diercks, Cecilia Astigiano, Raúl Pérez Mato, Adela Memushaj, Laura Sturla, Valerio Vellone, Gianluca Damonte, Michelle Y. Jaeckstein, Friedrich Koch-Nolte, Hans-Willi Mittrücker, Andreas H. Guse, Antonio De Flora, Joerg Heeren, Santina Bruzzone
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2024)
IntroductionDuring thermogenesis, adipose tissue (AT) becomes more active and enhances oxidative metabolism. The promotion of this process in white AT (WAT) is called “browning” and, together with the brown AT (BAT) activation, is considered as a
Externí odkaz:
https://doaj.org/article/6cbc007a0f474be38c4530fd56e6e433