Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly - Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; et al. (American journal of human genetics, 2010)
Keywords: Adult and adolescent clinical studies; Animals; Autism; Autistic Disorder - complications; Autistic Disorder - genetics; Base Sequence; Biochemistry, Molecular Biology; Biological and medical sciences; Brain - metabolism; Brain - pathology; Cell Differentiation; Craniofacial Abnormalities - complications; Craniofacial Abnormalities - genetics; DNA Mutational Analysis; Down-Regulation - genetics; Epilepsy; Epilepsy - complications; Epilepsy - genetics; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Golgi Apparatus - metabolism; HeLa Cells; Humans; Intellectual deficiency; Intellectual disabilities; Life Sciences; Male; Medical genetics; Medical sciences; Mice; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation - genetics; Neurons - metabolism; Neurons - pathology; Organ Specificity - genetics; Pediatrics; Pedigree; Protein Transport; Proteins; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; rab GTP-Binding Proteins - genetics; RNA, Small Interfering - metabolism; Synapses - genetics; X-Linked Intellectual Disability - complications; X-Linked Intellectual Disability - genetics; Human; Sex linked character; Nervous system diseases; Enzyme; Triphosphoric monoester hydrolases; Epilepsy; dGTPase; Esterases; Developmental disorder; Mental retardation; Cerebral disorder; Genetic disease; Autism; Gene; Central nervous system disease; Intellectual deficiency; Hydrolases; Genetics; X-Chromosome; Mutation; Neurological disorder; Macrocephaly