Dosage sensitivity to Pumilio1 variants in the mouse brain reflects distinct molecular mechanisms

Different mutations in the RNA‐binding protein Pumilio1 (PUM1) cause divergent phenotypes whose severity tracks with dosage: a mutation that reduces PUM1 levels by 25% causes late‐onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Yet PUM1 targets are derepressed to eq...

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Detalles Bibliográficos
Autores principales: Botta, Salvatore, de Prisco, Nicola, Chemiakine, Alexei, Brandt, Vicky, Cabaj, Maximilian, Patel, Purvi, Doron‐Mandel, Ella, Treadway, Colton J, Jovanovic, Marko, Brown, Nicholas G, Soni, Rajesh K, Gennarino, Vincenzo A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233381/
https://www.ncbi.nlm.nih.gov/pubmed/37070548
http://dx.doi.org/10.15252/embj.2022112721

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