Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1

Copy number variation (CNV) may lead to pathological traits, and Charcot-Marie-Tooth disease type 1A (CMT1A), the commonest inherited peripheral neuropathy, is due to a genomic duplication encompassing the dosage-sensitive PMP22 gene. MicroRNAs act as repressors on post-transcriptional regulation of...

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Detalles Bibliográficos
Autores principales: Pipis, Menelaos, Won, Seongsik, Poh, Roy, Efthymiou, Stephanie, Polke, James M, Skorupinska, Mariola, Blake, Julian, Rossor, Alexander M, Moran, John J, Munot, Pinki, Muntoni, Francesco, Laura, Matilde, Svaren, John, Reilly, Mary M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545524/
https://www.ncbi.nlm.nih.gov/pubmed/37337674
http://dx.doi.org/10.1093/brain/awad203

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