Search Results - "Mandel, J. L"

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 by Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F

“…Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic…”
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Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 by Paulson, H.L, Perez, M.K, Trottier, Y, Trojanowski, J.Q, Subramony, S.H, Das, S.S, Vig, P, Mandel, J.-L, Fischbeck, K.H, Pittman, R.N

“…The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of…”
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Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease by Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H

“…Bardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving field of ciliopathies, is characterized by pleiotropic clinical features and…”
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Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases by Laporte, Jocelyn, Bedez, Florence, Bolino, Alessandra, Mandel, Jean-Louis

“…The myotubularin family is a large eukaryotic group within the tyrosine/dual-specificity phosphatase super-family (PTP/DSP). Among the 14 human members, three…”
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Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway by BLONDEAU, Francois, LAPORTE, Jocelyn, BODIN, Stephane, SUPERTI-FURGA, Giulio, PAYRASTRE, Bernard, MANDEL, Jean-Louis

“…Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness, with pathological features…”
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia by Dürr, Alexandra, Cossee, Mireille, Agid, Yves, Campuzano, Victoria, Mignard, Claude, Penet, Christiane, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel

“…Friedreich's ataxia, an autosomal recessive neurodegenerative disorder, is the most common hereditary ataxia. Its estimated prevalence in European populations…”
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Monogenic causes of X-linked mental retardation by Chelly, Jamel, Mandel, Jean-Louis

“…Mutations in X-linked genes are likely to account for the observation that more males than females are affected by mental retardation. Causative mutations have…”
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Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats by Mandel, Jean-Louis, Abbas, Nacer, Dürr, Alexandra, Devys, Didier, Brice, Alexis, Saudou, Frédéric, Cancel, Gëraldine, Trottier, Yvon, Stevanin, Giovanni, Didierjean, Olivier, Yvert, Gaël, Weber, Chantal, Garnier, Jean-Marie, Agid, Yves, Imbert, Georges

“…Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By…”
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Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes by Campuzano, Victoria, Montermini, Laura, Lutz, Yves, Cova, Lidia, Hindelang, Colette, Jiralerspong, Sarn, Trottier, Yvon, Kish, Stephen J., Faucheux, Baptiste, Trouillas, Paul, Authier, François J., Dürr, Alexandra, Mandel, Jean-Louis, Vescovi, Angelo, Pandolfo, Massimo, Koenig, Michel

“…Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order to unravel frataxin function…”
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A Cellular Model That Recapitulates Major Pathogenic Steps of Huntington's Disease by Lunkes, Astrid, Mandel, Jean-Louis

“…To gain insight into the pathogenic mechanisms of Huntington's disease (HD), we have developed a stable cellular model, using a neuroblastoma cell line in…”
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Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing by Aliferis, K., Hellé, S., Gyapay, G., Duchatelet, S., Stoetzel, C., Mandel, J.-L., Dollfus, H.

“…Introduction: Early onset retinal degeneration associated with obesity can present a diagnostic challenge in paediatric ophthalmology practice. Clinical…”
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Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome by Trivier, Elisabeth, De Cesare, Dario, Jacquot, Sylvie, Pannetier, Solange, Zackai, Elaine, Young, Ian, Mandel, Jean-Louis, Sassone-Corsi, Paolo, Hanauer, André

“…The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive…”
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A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast by Laporte, Jocelyn, Mandel, Jean-Louis, Kioschis, Petra, Kretz, Christine, Klauck, Sabine M, Dahl, Niklas, Hu, Ling Jia, Coy, Johannes F, Poustka, Annemarie

“…X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired maturation of muscle fibres…”
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Adult centronuclear myopathies: A hospital-based study by Echaniz-Laguna, A., Biancalana, V., Böhm, J., Tranchant, C., Mandel, J.-L., Laporte, J.

“…Centronuclear myopathies (CNM) are rare inherited disorders characterized by nuclei placed in rows in the central part of the muscle fibres. Three CNM-causing…”
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Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human by Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Tentler, Dimtry, Kretz, Christine, Dahl, Niklas, Mandel, Jean-Louis

“…X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disorder due to mutations in the MTM1 gene. The corresponding protein, myotubularin,…”
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Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis by M'hamdi, O., Redin, C., Stoetzel, C., Ouertani, I., Chaabouni, M., Maazoul, F., M'rad, R., Mandel, J.L., Dollfus, H., Muller, J., Chaabouni, H.

“…Bardet–Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive…”
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Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome by Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., Mandel, J. L.

“…The fragile X syndrome, a common cause of inherited mental retardation, is characterized by an unusual mode of inheritance. Phenotypic expression has been…”
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The myotubularin family: from genetic disease to phosphoinositide metabolism by Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Mandel, Jean-Louis

“…The myotubularin-related genes define a large family of eukaryotic proteins, most of them initially characterized by the presence of a ten-amino acid consensus…”
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The N-Terminus of the Fragile X Mental Retardation Protein Contains a Novel Domain Involved in Dimerization and RNA Binding by Adinolfi, S, Ramos, A, Martin, S. R, Dal Piaz, F, Pucci, P, Bardoni, B, Mandel, J. L, Pastore, A

“…Fragile X syndrome, the most common cause of inherited mental retardation, is caused by the absence of the fragile X mental retardation protein (FMRP). The…”
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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein by Mandel, Jean-Louis, Inoue, Keizo, Arai, Hiroyuki, Arita, Makoto, Hentati, Fayçal, Hamida, Mongi Ben, Koenig, Michel, Ouahchi, Karim, Sokol, Ronald, Kayden, Herbert

“…Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an…”
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