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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 4, 2008
DOC2B acts as a calcium switch and enhances vesicle fusionReut Friedrich, Alexander J Groffen, Emma Connell, et al.Diabetes|June 16, 2012
Doc2b is a key effector of insulin secretion and skeletal muscle insulin sensitivityLatha Ramalingam, Eunjin Oh, Stephanie M Yoder, et al.Biophysical Journal|January 19, 2020
Synaptotagmin-1 and Doc2b Exhibit Distinct Membrane-Remodeling MechanismsRaya Sorkin, Margherita Marchetti, Emma Logtenberg, et al.Nature Communications|March 27, 2024
Tomosyns attenuate SNARE assembly and synaptic depression by binding to VAMP2-containing template complexesMarieke Meijer, Miriam Öttl, Jie Yang, et al.European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.Neurology|November 12, 2017
δ-Catenin (<i>CTNND2</i>) missense mutation in familial cortical myoclonic tremor and epilepsyAnne-Fleur van Rootselaar, Alexander J Groffen, Boukje de Vries, et al.Science (New York, N.Y.)|February 13, 2010
Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter releaseAlexander J Groffen, Sascha Martens, Rocío Díez Arazola, et al.European Journal of Human Genetics : EJHG|December 25, 2014
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceM Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, et al.American Journal of Human Genetics|January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusGea Beunders, Els Voorhoeve, Christelle Golzio, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2025
AUTS2-related syndrome: Insights from a large European cohortLorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.Pageof 2