Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a rare muscle disease characterized by an onset of weakness in the pharyngeal and eyelid muscles. The disease is caused by the extension of a polyalanine tract in the Poly(A) Binding Protein Nuclear 1 (PABPN1) protein leading to the formation of intranucl...

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Detalles Bibliográficos
Autores principales: Roth, Fanny, Dhiab, Jamila, Boulinguiez, Alexis, Mouigni, Hadidja-Rose, Lassche, Saskia, Negroni, Elisa, Muraine, Laura, Marhic, Alix, Oliver, Alison, Lainé, Jeanne, Rouche, Andrée, O’Ferrall, Erin K., van Engelen, Baziel, Ottenheijm, Coen, Greif, Hagar, Blumen, Sergiu, Lacau St Guily, Jean, Perie, Sophie, Butler-Browne, Gillian, Mouly, Vincent, Trollet, Capucine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9637588/
https://www.ncbi.nlm.nih.gov/pubmed/36197469
http://dx.doi.org/10.1007/s00401-022-02503-7

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