One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage

Autor: Beatrice Vione, Giuseppe Ramacieri, Giacomo Zavaroni, Angela Piano, Giorgia La Rocca, Maria Caracausi, Lorenza Vitale, Allison Piovesan, Caterina Gori, Gian Luca Pirazzoli, Pierluigi Strippoli, Guido Cocchi, Luigi Corvaglia, Chiara Locatelli, Maria Chiara Pelleri, Francesca Antonaros

Publikováno v: Frontiers in Medicine, Vol 9 (2022)

IntroductionDown syndrome (DS) is the most common chromosomal disorder and it is caused by trisomy of chromosome 21 (Hsa21). Subjects with DS show a large heterogeneity of phenotypes and the most constant clinical features present are typical facies

Externí odkaz: https://doaj.org/article/a3f49139663943738de0b1f4618c3787

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

Autor: Giuseppe Matarese, Daniela Melis, Claudia La Rocca, Mario Galgani, Francesco Perna, Veronica De Rosa, Generoso Andria, Giancarlo Parenti, Giorgia Minopoli, Fortunata Carbone

Publikováno v: The Journal of immunology (1950) 198 (2017): 3803–3808. doi:10.4049/jimmunol.1601946
info:cnr-pdr/source/autori:Melis, Daniela; Carbone, Fortunata; Minopoli, Giorgia; La Rocca, Claudia; Perna, Francesco; De Rosa, Veronica; Galgani, Mario; Andria, Generoso; Parenti, Giancarlo; Matarese, Giuseppe/titolo:Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function./doi:10.4049%2Fjimmunol.1601946/rivista:The Journal of immunology (1950)/anno:2017/pagina_da:3803/pagina_a:3808/intervallo_pagine:3803–3808/volume:198

Glycogen storage disease type 1b (GSD-1b) is an autosomal-recessive disease caused by mutation of glucose-6–phosphate transporter and characterized by altered glycogen/glucose homeostasis. A higher frequency of autoimmune diseases has been observed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b5e21efd5331100bc9b4dbc31b3856
http://www.cnr.it/prodotto/i/369656