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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382943/
https://www.ncbi.nlm.nih.gov/pubmed/28334956
http://dx.doi.org/10.1093/brain/awx014

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