Avtor/Urednik		D'Adamo, Patrizia; Menegon, Andrea; Lo Nigro, Cristiana; Grasso, Marina
Naslov		Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Tip		članek
Vir		Nat Genet
Vol. in št.		Letnik 19, št. 2
Leto izdaje		1998
Obseg		str. 134-9
Jezik		eng
Abstrakt		Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway. We have found mutations in the GDI1 gene (which encodes uGDI) in two families affected with X-linked non-specific mental retardation. One of the mutations caused a non-conservative substitution (L92P) which reduced binding and recycling of RAB3A, the second was a null mutation. Our results show that both functional and developmental alterations in the neuron may account for the severe impairment of learning abilities as a consequence of mutations in GDI1, emphasizing its critical role in development of human intellectual and learning abilities.
Deskriptorji		MUTATION BRAIN CRYSTALLOGRAPHY, X-RAY GTP-BINDING PROTEINS MENTAL RETARDATION MODELS, MOLECULAR MUTAGENESIS, SITE-DIRECTED NERVE TISSUE PROTEINS POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL PROTEIN CONFORMATION PROTO-ONCOGENE PROTEINS X CHROMOSOME