Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity

Neurobeachin regulates neurotransmitter receptor trafficking to synapses

(2013) Ramya Nair et al.   JOURNAL OF CELL BIOLOGY

AKAPs integrate genetic findings for autism spectrum disorders

(2013) G Poelmans et al.   Translational Psychiatry

Talin Contains A C-Terminal Calpain2 Cleavage Site Important In Focal Adhesion Dynamics

(2012) Neil Bate et al.   PLoS One

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Calpains — An elaborate proteolytic system

(2011) Yasuko Ono et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

The Autism Candidate Gene Neurobeachin Encodes a Scaffolding Protein Implicated in Membrane Trafficking and Signaling

(2011) K. Volders et al.   CURRENT MOLECULAR MEDICINE

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

(2011) Patricia B.S. Celestino-Soper et al.   HUMAN MOLECULAR GENETICS

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect

(2011) Michela Di Michele et al.   Journal of Proteomics

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

(2011) Cornelis A Albers et al.   NATURE GENETICS

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

(2011) John P Hussman et al.   Molecular Autism

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles

(2010) Dries Castermans et al.   HUMAN MOLECULAR GENETICS

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Molecular Mechanisms of SERT in Platelets: Regulation of Plasma Serotonin Levels

(2010) C. P. Mercado et al.   MOLECULAR INTERVENTIONS

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family

(2009) Agathe Burgess et al.   BIOINFORMATICS

Hyperserotonemia in autism: activity of 5HT-associated platelet proteins

(2009) Dubravka Hranilović et al.   JOURNAL OF NEURAL TRANSMISSION

Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses

(2009) Lucian Medrihan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Spectral clustering in peptidomics studies helps to unravel modification profile of biologically active peptides and enhances peptide identification rate

(2009) Gerben Menschaert et al.   PROTEOMICS

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS