Author/Editor		D'Adamo, Patrizia; Menegon, Andrea; Lo Nigro, Cristiana; Grasso, Marina
Title		Mutations in GDI1 are responsible for X-linked non-specific mental retardation
Type		članek
Source		Nat Genet
Vol. and No.		Letnik 19, št. 2
Publication year		1998
Volume		str. 134-9
Language		eng
Abstract		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.
Descriptors		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