Article
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain : a journal of neurology - 1 Apr 2017
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
Abstract excerpt
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 neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global...
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