Search Results - "Caillaud, Catherine"

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments by Stirnemann, Jérôme, Belmatoug, Nadia, Camou, Fabrice, Serratrice, Christine, Froissart, Roseline, Caillaud, Catherine, Levade, Thierry, Astudillo, Leonardo, Serratrice, Jacques, Brassier, Anaïs, Rose, Christian, Billette de Villemeur, Thierry, Berger, Marc G

“…Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which…”
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Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration by Boutry, Maxime, Branchu, Julien, Lustremant, Céline, Pujol, Claire, Pernelle, Julie, Matusiak, Raphaël, Seyer, Alexandre, Poirel, Marion, Chu-Van, Emeline, Pierga, Alexandre, Dobrenis, Kostantin, Puech, Jean-Philippe, Caillaud, Catherine, Durr, Alexandra, Brice, Alexis, Colsch, Benoit, Mochel, Fanny, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric

“…Lysosome membrane recycling occurs at the end of the autophagic pathway and requires proteins that are mostly encoded by genes mutated in neurodegenerative…”
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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients by Stirnemann, Jérôme, Vigan, Marie, Hamroun, Dalil, Heraoui, Djazia, Rossi-Semerano, Linda, Berger, Marc G, Rose, Christian, Camou, Fabrice, de Roux-Serratrice, Christine, Grosbois, Bernard, Kaminsky, Pierre, Robert, Alain, Caillaud, Catherine, Froissart, Roselyne, Levade, Thierry, Masseau, Agathe, Mignot, Cyril, Sedel, Frédéric, Dobbelaere, Dries, Vanier, Marie T, Valayanopoulos, Vassili, Fain, Olivier, Fantin, Bruno, de Villemeur, Thierry Billette, Mentré, France, Belmatoug, Nadia

“…Clinical features, complications and treatments of Gaucher's disease (GD), a rare autosomal-recessive disorder due to a confirmed lysosomal enzyme…”
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Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease by Mauhin, Wladimir, Benveniste, Olivier, Amelin, Damien, Montagner, Clémence, Lamari, Foudil, Caillaud, Catherine, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Lacombe, Didier, Maillard, Hélène, Lidove, Olivier

“…Fabry disease (OMIM #301 500), the most prevalent lysosomal storage disease, is caused by enzymatic defects in alpha-galactosidase A (GLA gene; Xq22.1). Fabry…”
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Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease by Nemazanyy, Ivan, Blaauw, Bert, Paolini, Cecilia, Caillaud, Catherine, Protasi, Feliciano, Mueller, Amelie, Proikas‐Cezanne, Tassula, Russell, Ryan C., Guan, Kun‐Liang, Nishino, Ichizo, Sandri, Marco, Pende, Mario, Panasyuk, Ganna

“…The complex of Vacuolar Protein Sorting 34 and 15 (Vps34 and Vps15) has Class III phosphatidylinositol 3‐kinase activity and putative roles in nutrient…”
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Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses by Piraud, Monique, Pettazzoni, Magali, Menegaut, Louise, Caillaud, Catherine, Nadjar, Yann, Vianey‐Saban, Christine, Froissart, Roseline

“…Rationale The first step in the diagnosis of oligosaccharidoses is to evidence abnormal oligosaccharides excreted in urine, usually performed by the poorly…”
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Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice by Niemir, Natalia, Rouvière, Laura, Besse, Aurore, Vanier, Marie T, Dmytrus, Jasmin, Marais, Thibaut, Astord, Stéphanie, Puech, Jean-Philippe, Panasyuk, Ganna, Cooper, Jonathan D, Barkats, Martine, Caillaud, Catherine

“…Abstract Sandhoff disease (SD) is a rare inherited disorder caused by a deficiency of β-hexosaminidase activity which is fatal because no effective treatment…”
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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study by Semplicini, Claudio, Letard, Pascaline, De Antonio, Marie, Taouagh, Nadjib, Perniconi, Barbara, Bouhour, Françoise, Echaniz-Laguna, Andoni, Orlikowski, David, Sacconi, Sabrina, Salort-Campana, Emmanuelle, Solé, Guilhem, Zagnoli, Fabien, Hamroun, Dalil, Froissart, Roseline, Caillaud, Catherine, Laforêt, Pascal

“…Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene. The clinical spectrum ranges from a…”
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Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY by Mauhin, Wladimir, Lidove, Olivier, Amelin, Damien, Lamari, Foudil, Caillaud, Catherine, Mingozzi, Federico, Dzangué-Tchoupou, Gaëlle, Arouche-Delaperche, Louiza, Douillard, Claire, Dussol, Bertrand, Leguy-Seguin, Vanessa, D'Halluin, Pauline, Noel, Esther, Zenone, Thierry, Matignon, Marie, Maillot, François, Ly, Kim-Heang, Besson, Gérard, Willems, Marjolaine, Labombarda, Fabien, Masseau, Agathe, Lavigne, Christian, Froissart, Roseline, Lacombe, Didier, Ziza, Jean Marc, Hachulla, Eric, Benveniste, Olivier

“…Fabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of…”
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First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease by Greillier, Sophie, Daniel, Laurent, Caillaud, Catherine, Dussol, Bertrand, Touchard, Guy, Goujon, Jean-Michel, Jourde-Chiche, Noémie, Bobot, Mickaël

“…Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular…”
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canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis by Abitbol, Marie, Thibaud, Jean-Laurent, Olby, Natasha J, Hitte, Christophe, Puech, Jean-Philippe, Maurer, Marie, Pilot-Storck, Fanny, Hédan, Benoit, Dréano, Stéphane, Brahimi, Sandra, Delattre, Delphine, André, Catherine, Gray, Françoise, Delisle, Françoise, Caillaud, Catherine, Bernex, Florence, Panthier, Jean-Jacques, Aubin-Houzelstein, Geneviève, Blot, Stéphane, Tiret, Laurent

“…Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by…”
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A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients by Lecourt, Séverine, Mouly, Enguerran, Freida, Delphine, Cras, Audrey, Ceccaldi, Raphaël, Heraoui, Djazia, Chomienne, Christine, Marolleau, Jean-Pierre, Arnulf, Bertrand, Porcher, Raphael, Caillaud, Catherine, Vanneaux, Valérie, Belmatoug, Nadia, Larghero, Jérôme

“…Gaucher disease (GD) is an autosomal recessive disorder characterized by lysosomal glucocerebrosidase (GBA) deficiency leading to hematological and skeletal…”
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Dystonia and parkinsonism in GM1 type 3 gangliosidosis by Roze, Emmanuel, Paschke, Eduard, Lopez, Nathalie, Eck, Thomas, Yoshida, Kunihiro, Maurel-Ollivier, Annie, Doummar, Diane, Caillaud, Catherine, Galanaud, Damien, Billette De Villemeur, Thierry, Vidailhet, Marie, Roubergue, Anne

“…GM1 gangliosidosis is due to β‐galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical…”
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Laboratory diagnosis and follow-up of Romanian Gaucher disease patients by Drugan, Cristina, Drugan, Tudor, Caillaud, Catherine, Grigorescu-Sido, Paula, Nistor, Tiberiu, Crăciun, Alexandra M.

“…Background: Gaucher disease (GD) is caused by a recessively inherited deficiency of glucocerebrosidase which is encoded by the GBA gene in which nearly 450…”
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A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients by Kraoua, Ichraf, Sedel, Frédéric, Caillaud, Catherine, Froissart, Roseline, Stirnemann, Jérôme, Chaurand, Guy, Flodrops, Hugues, Tari, Saliha, Gourfinkel-An, Isabelle, Mathieu, Sophie, Belmatoug, Nadia, Billette de Villemeur, Thierry, Mignot, Cyril

“…Abstract Objective To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following…”
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Induced secretion of β-hexosaminidase by human brain endothelial cells: A novel approach in Sandhoff disease? by Batista, Lionel, Miller, Florence, Clave, Céline, Arfi, Audrey, Douillard-Guilloux, Gaëlle, Couraud, Pierre-Olivier, Caillaud, Catherine

“…Abstract Sandhoff disease is an autosomal recessive lysosomal disorder due to mutations in the β-hexosaminidase β-chain gene, resulting in β-hexosaminidases A…”
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Bicistronic lentiviral vector corrects β-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts by Arfi, Audrey, Bourgoin, Christophe, Basso, Luisa, Emiliani, Carla, Tancini, Brunella, Chigorno, Vanna, Li, Yu-Teh, Orlacchio, Aldo, Poenaru, Livia, Sonnino, Sandro, Caillaud, Catherine

“…Sandhoff disease is an autosomal recessive neurodegenerative disease characterized by a GM2 ganglioside intralysosomal accumulation. It is due to mutations in…”
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Natural History of Adult Patients with GM2 Gangliosidosis by Masingue, Marion, Dufour, Louis, Lenglet, Timothée, Saleille, Lisa, Goizet, Cyril, Ayrignac, Xavier, Ory‐Magne, Fabienne, Barth, Magali, Lamari, Foudil, Mandia, Daniele, Caillaud, Catherine, Nadjar, Yann

“…Objective GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay–Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with…”
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Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms by Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes Alexander, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle

“…Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder…”
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Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019 by Laur, Domitille, Pichard, Samia, Bekri, Soumeya, Caillaud, Catherine, Froissart, Roseline, Levade, Thierry, Roubertie, Agathe, Desguerre, Isabelle, Héron, Bénédicte, Auvin, Stéphane

“…GM1 gangliosidosis is a rare lysosomal storage disorder associated with β-galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on…”
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