Search Results - "Labilloy, Anatália"

VAMP7 modulates ciliary biogenesis in kidney cells by Szalinski, Christina M, Labilloy, Anatália, Bruns, Jennifer R, Weisz, Ora A

“…Epithelial cells elaborate specialized domains that have distinct protein and lipid compositions, including the apical and basolateral surfaces and primary…”
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Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease by Labilloy, Anatália, Youker, Robert T., Bruns, Jennifer R., Kukic, Ira, Kiselyov, Kirill, Halfter, Willi, Finegold, David, Monte, Semiramis Jamil Hadad do, Weisz, Ora A.

“…Accumulation of globotriaosylceramide (Gb3) and other neutral glycosphingolipids with galactosyl residues is the hallmark of Fabry disease, a lysosomal storage…”
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Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report by Katz, Jason, Labilloy, Anatalia, Lee, Andrew

“…Background Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These…”
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New concepts in basement membrane biology by 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

“…Basement membranes (BMs) are thin sheets of extracellular matrix that outline epithelia, muscle fibers, blood vessels and peripheral nerves. The current view…”
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Characterization and phosphoproteomic analysis of a human immortalized podocyte model of Fabry disease generated using CRISPR/Cas9 technology by Pereira, Ester M, Labilloy, Anatália, Eshbach, Megan L, Roy, Ankita, Subramanya, Arohan R, Monte, Semiramis, Labilloy, Guillaume, Weisz, Ora A

“…Fabry nephropathy is a major cause of morbidity and premature death in patients with Fabry disease (FD), a rare X-linked lysosomal storage disorder. Gb3, the…”
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Podocitúria na doença de Fabry by Ester Miranda Pereira, Adalberto Socorro da Silva, Anatália Labilloy, José Tiburcio do Monte Neto, Semiramis Jamil Hadad do Monte

“…Resumo Introdução: A doença de Fabry (DF) é uma desordem lisossômica ligada ao cromossomo X ocasionada por mutações no gene que codifica a enzima lisossômica…”
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Infantile Hypotonia: A Case of Spinal Muscular Atrophy With Respiratory Distress Type 1 Presenting As Infant Botulism by Cardenas, Juan, Cardenas, Jose, Lee, Andrew, Brown, Martha, Galan, Fernando, Scimeme, Jason, Labilloy, Anatalia

“…Spinal muscular atrophy with respiratory distress type 1 (SMARD 1) is a rare autosomal recessive disease characterized by distal muscular atrophy and…”
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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants by 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

“…Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first…”
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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 by 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

“…► DNA damage induced by AA and GA in cultured human lymphocytes was evaluated. ► AA only slightly induced SCEs, especially for the highest concentration…”
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Lysosome-associated protein 1 (LAMP-1) and Lysosome-associated protein 2 (LAMP-2) in a larger family carrier of Fabry disease by 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.

“…This study investigated the potential relationship between the expression levels of lysosome-associated membrane proteins (LAMP) 1 and 2 and responses to…”
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Apical targeting and endocytosis of the sialomucin endolyn are essential for establishment of zebrafish pronephric kidney function by Mo, Di, Ihrke, Gudrun, Costa, Simone A, Brilli, Lauren, Labilloy, Anatália, Halfter, Willi, Cianciolo Cosentino, Chiara, Hukriede, Neil A, Weisz, Ora A

“…Kidney function requires the appropriate distribution of membrane proteins between the apical and basolateral surfaces along the kidney tubule. Further, the…”
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CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M) by 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

“…ABSTRACT Introduction: Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A (α-GAL). Reduced α-GAL…”
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Assessing the Role of OCRL1 in Proximal Tubule Function in a Lowe Syndrome Cell Model by Eshbach, Megan L., Shipman, Katherine E., Raghavan, Venkatesan, Rbaibi, Youssef, Long, Kimberly R., Labilloy, Anatália, Baty, Catherine J., Weisz, Ora A.

“…Abstract only Lowe syndrome is an X‐linked recessive disorder caused by mutations in OCRL , which encodes the phosphatidylinositol 5′‐phosphatase OCRL1…”
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Podocyturia in Fabry disease by Pereira, Ester Miranda, Silva, Adalberto Socorro da, Labilloy, Anatália, Monte Neto, José Tiburcio do, Monte, Semiramis Jamil Hadad do

“…Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene (Xq22). Such changes result in the reduction/absence of activity of the…”
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Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease by Labilloy, Anatália, Youker, Robert T., Bruns, Jennifer R., Kukic, Ira, Kiselyov, Kiril, Halfter, Willi, Finegold, David N., Monte, Semiramis Jamil Hadad do, Weisz, Ora A.

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Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II by Shamoun, Alex J., Madrid, Kyle, Ferreira, Leonardo, Labilloy, Anatalia

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Deep vein thrombosis is a common life-threatening complication in mucopolysaccharidosis type II by Labilloy, Anatalia, Berry, Lisa, Wehmeyer, Connie, Hopkin, Robert J., Prada, Carlos E.

“…Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal disorder caused by deficiency of iduronate 2-sulfatase resulting in progressive accumulation of…”
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Long-term clinical outcomes of patients with mucopolysaccharidosis type II: A case series by Bordley, Madeleine, Labilloy, Anatalia, Wehmeyer, Connie, Berry, Lisa, Bailey, Laurie, Wood, Robert, Hopkin, Robert J., Prada, Carlos E.

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Proteomic profiling of engineered human immortalized podocyte cell model of Fabry disease by Neto, José Tibúrcio M., Kirsztajn, Gianna M., Pereira, Ester M., Andrade, Helida M., Oliveira, Ivana Helena R., Labilloy, Anatalia, da Silva, Adalberto S.

“…Renal involvment in Fabry disease (FD) is a frequent and early event with a significant morbidity and adverse prognosis, manifesting itself, initially, through…”
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Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13 by 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

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