PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopme...

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Publicado en:Brain
Main Authors: Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E., Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V., Simpson, Michael A., Rich, Philip, Al-Salmi, Fatema, Patton, Michael A., Chioza, Barry A., Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G., Pucci, Piero, Houlden, Henry, Lupski, James R., Crosby, Andrew H., Baple, Emma L.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2017
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5382943/
https://ncbi.nlm.nih.gov/pubmed/28334956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx014
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