Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Martine Oloko"'
Autor:
Aymeric Chartier, Pierre Klein, Stéphanie Pierson, Nicolas Barbezier, Teresa Gidaro, François Casas, Steven Carberry, Paul Dowling, Laurie Maynadier, Maëlle Bellec, Martine Oloko, Claude Jardel, Bodo Moritz, George Dickson, Vincent Mouly, Kay Ohlendieck, Gillian Butler-Browne, Capucine Trollet, Martine Simonelig
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005092 (2015)
Oculopharyngeal muscular dystrophy (OPMD), a late-onset disorder characterized by progressive degeneration of specific muscles, results from the extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). While the roles of PABPN1
Externí odkaz:
https://doaj.org/article/dbbba7479a784db7a0c52b8e09340a27
Autor:
Bruno Bastide, Alberto Malerba, Vincent Mouly, George Dickson, Capucine Trollet, Fanny Roth, Sophie Périé, Jean Lacau St Guily, Teresa Gidaro, Linda Popplewell, Gillian Butler-Browne, Valérie Montel, Pierre Klein, Susan Jarmin, Michael Antoniou, Martine Oloko, Pierre de la Grange
Publikováno v:
Nucleic Acids Research
Nucleic Acids Research, 2016, 44 (22), pp.10929-10945. ⟨10.1093/nar/gkw703⟩
Nucleic Acids Research, Oxford University Press, 2016, 44 (22), pp.10929-10945. ⟨10.1093/nar/gkw703⟩
Klein, P, Oloko, M, Roth, F, Montel, V, Malerba, A, Jarmin, S, Gidaro, T, Popplewell, L, Perie, S, St Guily, J L, De La Grange, P, Antoniou, M N, Dickson, G, Butler-Browne, G, Bastide, B, Mouly, V & Trollet, C 2016, ' Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing ', Nucleic Acids Research, vol. 44, no. 22, pp. 10929-10945 . https://doi.org/10.1093/nar/gkw703
Europe PubMed Central
Nucleic Acids Research, 2016, 44 (22), pp.10929-10945. ⟨10.1093/nar/gkw703⟩
Nucleic Acids Research, Oxford University Press, 2016, 44 (22), pp.10929-10945. ⟨10.1093/nar/gkw703⟩
Klein, P, Oloko, M, Roth, F, Montel, V, Malerba, A, Jarmin, S, Gidaro, T, Popplewell, L, Perie, S, St Guily, J L, De La Grange, P, Antoniou, M N, Dickson, G, Butler-Browne, G, Bastide, B, Mouly, V & Trollet, C 2016, ' Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing ', Nucleic Acids Research, vol. 44, no. 22, pp. 10929-10945 . https://doi.org/10.1093/nar/gkw703
Europe PubMed Central
International audience; A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystro-phy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f207aaf1e7153ceebae3685c7b2e628
http://hdl.handle.net/20.500.12210/12265
http://hdl.handle.net/20.500.12210/12265
Autor:
Steven Carberry, Martine Simonelig, Martine Oloko, Maelle Bellec, Teresa Gidaro, Vincent Mouly, George Dickson, Pierre Klein, Gillian Butler-Browne, Nicolas Barbezier, Claude Jardel, Stéphanie Pierson, Capucine Trollet, Bodo Moritz, Aymeric Chartier, Paul Dowling, Laurie Maynadier, Kay Ohlendieck, François Casas
Publikováno v:
PLoS Genetics
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092. 〈10.1371/journal.pgen.1005092〉
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092. ⟨10.1371/journal.pgen.1005092⟩
Plos Genetics 3 (11), . (2015)
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092
PLoS Genetics, Vol 11, Iss 3, p e1005092 (2015)
PLoS Genetics, 2015, 11 (3), pp.e1005092. ⟨10.1371/journal.pgen.1005092⟩
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092. 〈10.1371/journal.pgen.1005092〉
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092. ⟨10.1371/journal.pgen.1005092⟩
Plos Genetics 3 (11), . (2015)
PLoS Genetics, Public Library of Science, 2015, 11 (3), pp.e1005092
PLoS Genetics, Vol 11, Iss 3, p e1005092 (2015)
PLoS Genetics, 2015, 11 (3), pp.e1005092. ⟨10.1371/journal.pgen.1005092⟩
Oculopharyngeal muscular dystrophy (OPMD), a late-onset disorder characterized by progressive degeneration of specific muscles, results from the extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). While the roles of PABPN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ff5c281f9c302402997dd1099b34588
https://hal.sorbonne-universite.fr/hal-01231399/file/journal.pgen.1005092.pdf
https://hal.sorbonne-universite.fr/hal-01231399/file/journal.pgen.1005092.pdf
Autor:
Vincent Mouly, Gillian Butler-Browne, J.L. St Guily, Pierre Klein, Elisa Negroni, Martine Oloko, Kamel Mamchaoui, Capucine Trollet, Sophie Périé, M. Lesnik, Anne Bigot, Teresa Gidaro
Publikováno v:
Neuromuscular Disorders. 23:826
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant inherited dystrophy due to an expansion of GCG repeats in the coding region of the ubiquitously expressed PABPN1 gene. The main muscular targets of OPMD are cricopharyngeal