Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses

Psychiatric Genetics

Volumn 23, Issue 6, 2013, Pages 262-266

  Camacho Garcia, Rafael J ^a   Hervás, Amaia ^c   Toma, Claudio ^d,e   Balmaña, Noemí ^c   Cormand, Bru ^d,e   Martinez Mir, Amalia ^a   Scholl, Francisco G ^a,b  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b UNIVERSITY OF SEVILLE   (Spain)

^c HOSPITAL MÚTUA DE TERRASSA   (Spain)

^d UNIVERSITY OF BARCELONA   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

autism; mutation; neurexin; neuroligin; NRXN; synapse; translation

Indexed keywords

GENOMIC DNA; MEMBRANE PROTEIN; METHIONINE; NEUREXIN 1 BETA; SYNAPSIN; SYNAPTOBREVIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; ASPERGER SYNDROME; AUTISM; CAUCASIAN; COHORT ANALYSIS; CONTROLLED STUDY; DSM-IV-TR; FEMALE; GENETIC VARIABILITY; HIPPOCAMPUS; HUMAN; IMMUNOFLUORESCENCE; LANGUAGE DELAY; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NERVE CELL CULTURE; NERVE CELL DIFFERENTIATION; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; POINT MUTATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SEGREGATION ANALYSIS; START CODON; SYNAPSE; TRANSLATION INITIATION; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ANIMALS; AUTISTIC DISORDER; BASE SEQUENCE; CODON, INITIATOR; FEMALE; HEK293 CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RATS; SYNAPSES;

EID: 84887090057     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0000000000000013     Document Type: Article

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