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Title: Platelets of mice heterozygous for neurobeachin, a candidate gene for autism spectrum disorder, display protein changes related to aberrant protein kinase A activity
Authors: Nuytens, Kim *
Tuand, Krizia *
Di Michele, Michela
Boonen, Kurt
Waelkens, Etienne
Freson, Kathleen
Creemers, John # ×
Issue Date: Nov-2013
Publisher: BioMed Central Ltd.
Series Title: Molecular Autism vol:4
Article number: 43
Abstract: Neurobeachin (NBEA) has been identified as a candidate gene for autism spectrum disorders (ASD) in several unrelated patients with alterations in the NBEA gene. The exact function of NBEA, a multidomain scaffolding protein, is currently unknown. It contains an A-kinase anchoring protein (AKAP) domain which binds the regulatory subunit of protein kinase A (PKA) thereby confining its activity to specific subcellular regions. NBEA has been implicated in post-Golgi membrane trafficking and in regulated secretion. The mechanism of regulated secretion is largely conserved between neurons and platelets, and the morphology of platelet dense granules was found to be abnormal in several ASD patients, including one with NBEA haploinsufficiency. Platelet dense granules are secreted upon vascular injury when platelets are exposed to for instance collagen. Dense granules contain serotonin, ATP and ADP, which are necessary for platelet plug formation and vascular contraction.
URI: 
ISSN: 2040-2392
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular and Vascular Biology
Department of Human Genetics - miscellaneous
* (joint) first author
× corresponding author
# (joint) last author

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