Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1

(2009) Akiko Nakano-Kobayashi et al.   CURRENT BIOLOGY

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

(2009) Malik Khelfaoui et al.   HUMAN MOLECULAR GENETICS

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

A BAR domain-mediated autoinhibitory mechanism for RhoGAPs of the GRAF family

(2008) Alexander Eberth et al.   BIOCHEMICAL JOURNAL

XLMR genes: update 2007

(2008) Pietro Chiurazzi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS