New concepts in basement membrane biology
Halfter, Willi, Oertle, Philipp, Monnier, Christophe A, Camenzind, Leon, Reyes‐Lua, Magaly, Hu, Huaiyu, Candiello, Joseph, Labilloy, Anatalia, Balasubramani, Manimalha, Henrich, Paul Bernhard, Plodinec, Marija
Published in The FEBS journal (01.12.2015)
Published in The FEBS journal (01.12.2015)
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Journal Article
Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology
Pereira, Ester M, Labilloy, Anatália, Eshbach, Megan L, Roy, Ankita, Subramanya, Arohan R, Monte, Semiramis, Labilloy, Guillaume, Weisz, Ora A
Published in American journal of physiology. Renal physiology (01.11.2016)
Published in American journal of physiology. Renal physiology (01.11.2016)
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Journal Article
Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism
Cardenas, Juan, Cardenas, Jose, Lee, Andrew, Brown, Martha, Galan, Fernando, Scimeme, Jason, Labilloy, Anatalia
Published in Curēus (Palo Alto, CA) (24.10.2021)
Published in Curēus (Palo Alto, CA) (24.10.2021)
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Journal Article
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G, Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T, Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M, Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I Karen, Turnpenny, Peter, Val Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E, Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: Role of polymorphisms in detoxification and DNA-repair genes in the genotoxicity of glycidamide
Pingarilho, Marta, Oliveira, Nuno G., Martins, Célia, Gomes, Bruno Costa, Fernandes, Ana Sofia, Martins, Vanda, Labilloy, Anatália, de Lima, João Pereira, Rueff, José, Gaspar, Jorge Francisco
Published in Mutation research (15.04.2013)
Published in Mutation research (15.04.2013)
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Journal Article
Lysosome-associated protein 1 (LAMP-1) and Lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease
Pereira, Ester M., do Monte, Semiramis J.H., do Nascimento, Fernando F., de Castro, Jose A.F., Sousa, Jackeline L.M., Filho, Henrique C.S.A.L.C., da Silva, Raimundo N., Labilloy, Anatália, Monte Neto, José T., da Silva, Adalberto S.
Published in Gene (15.02.2014)
Published in Gene (15.02.2014)
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Journal Article
Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function
Mo, Di, Ihrke, Gudrun, Costa, Simone A, Brilli, Lauren, Labilloy, Anatália, Halfter, Willi, Cianciolo Cosentino, Chiara, Hukriede, Neil A, Weisz, Ora A
Published in Journal of cell science (15.11.2012)
Published in Journal of cell science (15.11.2012)
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Journal Article
CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M)
Pereira, Ester Miranda, Silva, Adalberto Socorro da, Silva, Raimundo Nonato da, Monte Neto, José Tiburcio, Nascimento, Fernando F do, Sousa, Jackeline L M, Costa Filho, Henrique César Saraiva de Arêa Leão, Sales Filho, Herton Luiz Alves, Labilloy, Anatalia, Monte, Semiramis Jamil Hadad do
Published in Brazilian Journal of Nephrology (01.10.2018)
Published in Brazilian Journal of Nephrology (01.10.2018)
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Journal Article
Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II
Shamoun, Alex J., Madrid, Kyle, Ferreira, Leonardo, Labilloy, Anatalia
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
VAMP7 modulates ciliary biogenesis in kidney cells
Szalinski, Christina M, Labilloy, Anatália, Bruns, Jennifer R, Weisz, Ora A
Published in PloS one (22.01.2014)
Published in PloS one (22.01.2014)
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Journal Article
Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease
Labilloy, Anatália, Youker, Robert T., Bruns, Jennifer R., Kukic, Ira, Kiselyov, Kirill, Halfter, Willi, Finegold, David, Monte, Semiramis Jamil Hadad do, Weisz, Ora A.
Published in Molecular genetics and metabolism (01.02.2014)
Published in Molecular genetics and metabolism (01.02.2014)
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Journal Article
Long-term clinical outcomes of patients with mucopolysaccharidosis type II: A case series
Bordley, Madeleine, Labilloy, Anatalia, Wehmeyer, Connie, Berry, Lisa, Bailey, Laurie, Wood, Robert, Hopkin, Robert J., Prada, Carlos E.
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Proteomic profiling of engineered human immortalized podocyte cell model of Fabry disease
Neto, José Tibúrcio M., Kirsztajn, Gianna M., Pereira, Ester M., Andrade, Helida M., Oliveira, Ivana Helena R., Labilloy, Anatalia, da Silva, Adalberto S.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
Russell, Bianca E., Whaley, Kaitlin G., Bove, Kevin E., Labilloy, Anatalia, Lombardo, Rachel C., Hopkin, Robert J., Leslie, Nancy D., Prada, Carlos, Assouline, Zahra, Barcia, Giulia, Bouchereau, Juliette, Chomton, Maryline, Debray, Dominique, Dorboz, Imen, Durand, Philippe, Gaignard, Pauline, Habes, Dalila, Jardel, Claude, Labarthe, François, Lévy, Jonathan, Lombès, Anne, Mehler‐Jacob, Claire, Melki, Judith, Menvielle, Laura, Munnich, Arnold, Mussini, Charlotte, Pichard, Samia, Rio, Marlène, Rötig, Agnès, Sissaoui, Samira, Slama, Abdelhamid, Miethke, Alexander G, Schiff, Manuel
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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Journal Article
Differentially expressed proteins in genetically edited human podocytes: contributing to the understanding of early molecular events in Fabry Disease / Proteínas diferencialmente expressas em podócitos humanos geneticamente editados: contribuições para elucidação dos eventos moleculares iniciais na doença de Fabry
Neto, José Tibúrcio do Monte, Pereira, Ester Miranda, Da Silva, Adalberto Socorro, Oliveira, Ivana Helena Rocha, Do Monte, Semiramis Jamil Hadad, Labilloy, Anatalia, Andrade, Helida Monteiro, Kirsztajn, Gianna Mastroianni
Published in Brazilian Journal of Development (20.01.2022)
Published in Brazilian Journal of Development (20.01.2022)
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Journal Article
Differentially expressed proteins in genetically edited human podocytes: contributing to the understanding of early molecular events in Fabry Disease
Neto, José Tiburcio do Monte, PEREIRA, ESTER MIRANDA, Da Silva, Adalberto Socorro, Oliveira, Ivana Helena Rocha, Do Monte, Semiramis Jamil Hadad, Labilloy, Anatalia, Andrade, Helida Monteiro, Kirsztajn, Gianna Mastroianni
Published in Brazilian Journal of Development (29.11.2021)
Published in Brazilian Journal of Development (29.11.2021)
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Journal Article