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List of works by Alexander J Groffen

A Potential Role for the STXBP5-AS1 Gene in Adult ADHD Symptoms

article

Agrin Is a Major Heparan Sulfate Proteoglycan in the Human Glomerular Basement Membrane ⬇️

scientific article published on January 1, 1998

Ca(2+)-induced recruitment of the secretory vesicle protein DOC2B to the target membrane.

scientific article published on 21 March 2004

Chronic activation of the 5-HT(2) receptor reduces 5-HT neurite density as studied in organotypic slice cultures.

scientific article published in September 2009

DOC2 isoforms play dual roles in insulin secretion and insulin-stimulated glucose uptake.

scientific article published on 9 July 2014

DOC2B acts as a calcium switch and enhances vesicle fusion

scientific article

Deletion of Munc18-1 in 5-HT neurons results in rapid degeneration of the 5-HT system and early postnatal lethality.

scientific article

Differential Expression of Agrin in Renal Basement Membranes As Revealed by Domain-specific Antibodies ⬇️

scientific article published on July 10, 1998

Differential distribution and regulation of expression of synaptosomal-associated protein of 25 kDa isoforms in the Xenopus pituitary gland and brain.

scientific article

Direct quantitative detection of Doc2b-induced hemifusion in optically trapped membranes

scientific article

Doc2 Proteins Are Not Required for the Increased Spontaneous Release Rate in Synaptotagmin-1-Deficient Neurons

scientific article published on 25 February 2020

Doc2B acts as a calcium sensor for vesicle priming requiring synaptotagmin-1, Munc13-2 and SNAREs.

scientific article published on 23 December 2017

Doc2b Ca2+ binding site mutants enhance synaptic release at rest at the expense of sustained synaptic strength

scientific article published on 08 October 2019

Doc2b synchronizes secretion from chromaffin cells by stimulating fast and inhibiting sustained release

scientific article published in October 2013

Evidence for the Existence of Multiple Heparan Sulfate Proteoglycans in the Human Glomerular Basement Membrane and Mesangial Matrix ⬇️

scientific article published on July 1, 1997

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Functional characterization of the PCLO p.Ser4814Ala variant associated with major depressive disorder reveals cellular but not behavioral differences

scientific article published on June 2015

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.

scientific article published on 30 June 2012

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

scientific article

Multiple Ca2+ sensors in secretion: teammates, competitors or autocrats? ⬇️

scientific article published on 09 August 2011

Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin

scientific article published on 30 March 2012

Primary structure and high expression of human agrin in basement membranes of adult lung and kidney ⬇️

scientific article published on May 15, 1998

SICT: automated detection and supervised inspection of fast Ca transients

scientific article published in Scientific Reports

TRIM3 regulates the motility of the kinesin motor protein KIF21B

scientific article (publication date: 2013)

Tomosyn associates with secretory vesicles in neurons through its N- and C-terminal domains.

scientific article published on 26 July 2017

Tomosyn interacts with the SUMO E3 ligase PIASγ.

scientific article

Tomosyn-2 is required for normal motor performance in mice and sustains neurotransmission at motor endplates.

scientific article

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models

scientific article published on 17 August 2018

Two distinct genes drive expression of seven tomosyn isoforms in the mammalian brain, sharing a conserved structure with a unique variable domain.

scientific article

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

scientific article published on 10 September 2014

δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy

scientific article published on 10 November 2017

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