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Mucopolysaccharide quantitation in urine by LC-MS/MS

Journal Article published Feb 2019 in Molecular Genetics and Metabolism volume 126 issue 2 on pages S89 to S90

Authors: Jean M. Lacey, Dimitar K. Gavrilov, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli

Mucopolysaccharidosis type VII: Selective retrospective screening detects 4 new cases

Journal Article published Feb 2019 in Molecular Genetics and Metabolism volume 126 issue 2 on page S56

Authors: Joaquin Frabasil, Consuelo Durand, Silvia Sokn, Ricardo Carabajal, Patricia Carozza, Daniela Gaggioli, Juan Politei, Andrea B. Schenone

Hippo and necroptosis pathways are involved in cell growth defects in Gaucher disease

Journal Article published Feb 2019 in Molecular Genetics and Metabolism volume 126 issue 2 on page S25

Authors: Annalisa Astolfi, Daria Messelodi, Silvia Strocchi, Salvatore N. Bertuccio, Davide Leardini, Alberto Taddia, Annalisa Pession, Daniela Grifoni, Andrea Pession

Clinical profile of mucopolysaccharidosis type I patients from a Brazilian reference center

Journal Article published Feb 2019 in Molecular Genetics and Metabolism volume 126 issue 2 on page S136

Authors: Joselito Sobreira, Marco Antônio Curiati, Carmen Silvia Curiati Mendes, Maret Holanda Rand, Ana Maria Martins

Multiplex assay for the tandem detection of ceramide trihexosides and sulfatides: Efficient first tier screening for Fabry, MLD, MSD, and Saposin B in urine

Journal Article published Feb 2019 in Molecular Genetics and Metabolism volume 126 issue 2 on page S108

Authors: Kim K. Nickander, Jean M. Lacey, Dimitar K. Gavrilov, Dietrich Matern, Devin Oglesbee, Piero Rinaldo, Silvia Tortorelli, Kimiyo Raymond

Redox- and Ligand Binding-Dependent Conformational Ensembles in the Human Apoptosis-Inducing Factor Regulate Its Pro-Life and Cell Death Functions

Journal Article published 11 Jan 2019 in Antioxidants & Redox Signaling

Authors: Raquel Villanueva, Silvia Romero-Tamayo, Ruben Laplaza, Juan Martínez-Olivan, Adrián Velázquez-Campoy, Javier Sancho, Patricia Ferreira, Milagros Medina

Participation of NADPH 4 oxidase in thyroid regulation

Journal Article published Jan 2019 in Molecular and Cellular Endocrinology volume 480 on pages 65 to 73

Research funded by National Research Council | National Agency for the Promotion of Science and Technology

Authors: Romina Oglio, Leonardo Salvarredi, Luciano Rossich, Silvia Copelli, Mario Pisarev, Guillermo Juvenal, Lisa Thomasz

Carbonic Anhydrase Inhibitors of Different Structures Dilate Pre-Contracted Porcine Retinal Arteries

Journal Article published 22 Jan 2019 in International Journal of Molecular Sciences volume 20 issue 3 on page 467

Authors: Thor Eysteinsson, Hrönn Gudmundsdottir, Arnar Oessur Hardarson, Emanuela Berrino, Silvia Selleri, Claudiu T. Supuran, Fabrizio Carta

Using integrative taxonomy and multispecies coalescent models for phylogeny reconstruction and species delimitation within the “Nastanthus–Gamocarpha” clade (Calyceraceae)

Journal Article published Jan 2019 in Molecular Phylogenetics and Evolution volume 130 on pages 211 to 226

Research funded by National Science Foundation (DEB-1354791) | ANPCYT (0798, 1542)

Authors: Silvia S. Denham, Nicolás F. Brignone, Leigh A. Johnson, Raúl E. Pozner

Cyclo(His-Pro) inhibits NLRP3 inflammasome cascade in ALS microglial cells

Journal Article published Jan 2019 in Molecular and Cellular Neuroscience volume 94 on pages 23 to 31

Research funded by Department of Experimental Medicine (FFRB17IB)

Authors: Silvia Grottelli, Letizia Mezzasoma, Paolo Scarpelli, Ivana Cacciatore, Barbara Cellini, Ilaria Bellezza