Hepatocyte-specific O-GlcNAc transferase downregulation ameliorates nonalcoholic steatohepatitis by improving mitochondrial function

Autor: Maria J. Gonzalez-Rellan, Tamara Parracho, Violeta Heras, Amaia Rodriguez, Marcos F. Fondevila, Eva Novoa, Natalia Lima, Marta Varela-Rey, Ana Senra, Maria D.P. Chantada-Vazquez, Cristina Ameneiro, Ganeko Bernardo, David Fernandez-Ramos, Fernando Lopitz-Otsoa, Jon Bilbao, Diana Guallar, Miguel Fidalgo, Susana Bravo, Carlos Dieguez, Maria L. Martinez-Chantar, Oscar Millet, Jose M. Mato, Markus Schwaninger, Vincent Prevot, Javier Crespo, Gema Frühbeck, Paula Iruzubieta, Ruben Nogueiras

Publikováno v: Molecular Metabolism, Vol 75, Iss , Pp 101776- (2023)

Objective: O-GlcNAcylation is a post-translational modification that directly couples the processes of nutrient sensing, metabolism, and signal transduction, affecting protein function and localization, since the O-linked N-acetylglucosamine moiety c

Externí odkaz: https://doaj.org/article/534b9501b49e4a008f0846e144ff4da3

TheNR5A1/SF-1variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development

Autor: Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, M. Concepción Alonso-Cerezo, Pilar Bahillo, Laura Berthod, Isabel Esteva, Luis Castaño, Christa E. Flück

Steroidogenic factor 1 (SF-1,NR5A1) plays an important role in human sex development. Variants ofNR5A1/SF-1 may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. So far, the broad DSD phenotypic variabilit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ac948c94c4163e35a43f531cfd92ec6f
https://doi.org/10.1101/2023.02.13.23285760

BMI-based obesity classification misses children and adolescents with raised cardiometabolic risk due to increased adiposity

Autor: J. Karina Zapata, M. Cristina Azcona-Sanjulian, Victoria Catalán, Beatriz Ramírez, Camilo Silva, Amaia Rodríguez, Javier Escalada, Gema Frühbeck, Javier Gómez-Ambrosi

Publikováno v: Cardiovascular Diabetology, Vol 22, Iss 1, Pp 1-10 (2023)

Abstract Objective To assess how inaccurately the body mass index (BMI) is used to diagnose obesity compared to body fat percentage (BF%) measurement and to compare the cardiometabolic risk in children and adolescents with or without obesity accordin

Externí odkaz: https://doaj.org/article/89cfbe22a2394f7e84c9949f88ea794d

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context

Autor: Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

Publikováno v: EBioMedicine, Vol 99, Iss , Pp 104941- (2024)

Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We

Externí odkaz: https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3

Effect of guanylin peptides on pancreas steatosis and function in experimental diet-induced obesity and after bariatric surgery

Autor: Aarón Otero, Sara Becerril, Marina Martín, Javier A. Cienfuegos, Víctor Valentí, Rafael Moncada, Victoria Catalán, Javier Gómez-Ambrosi, María A. Burrell, Gema Frühbeck, Amaia Rodríguez

Publikováno v: Frontiers in Endocrinology, Vol 14 (2023)

IntroductionObesity contributes to ectopic fat deposition in non-adipose organs, including the pancreas. Pancreas steatosis associates with inflammation and β-cell dysfunction, contributing to the onset of insulin resistance and type 2 diabetes. An

Externí odkaz: https://doaj.org/article/a67e37be52534e13972180aa549273c8