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Research Output 1993 2019

2019

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

The EAGLE-ADHD Consortium, 18 Jan 2019, In : Behavior Genetics. p. 1-16 16 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Impulsive Behavior
Single Nucleotide Polymorphism
Meta-Analysis
signs and symptoms (animals and humans)
meta-analysis
2018

SICT: automated detection and supervised inspection of fast Ca2+ transients

Mancini, R., van der Bijl, T., Bourgeois-Jaarsma, Q., Lasabuda, R. & Groffen, A. J., 19 Oct 2018, In : Scientific Reports. 8, p. 1-13 13 p., 15523.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Signal-To-Noise Ratio
Motion Pictures
Caffeine
Quality Control
Neurons

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

Deurloo, M. H. S., Turlova, E., Chen, W. L., Lin, Y. W., Tam, E., Tassew, N. G., Wu, M., Huang, Y. C., Crawley, J. N., Monnier, P. P., Groffen, A. J. A., Sun, H. S., Osborne, L. R. & Feng, Z. P., 17 Aug 2018, In : Molecular Neurobiology. p. 1-13 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Transcription Factors
Williams Syndrome
Calcium
Proteins
General Transcription Factors
2017

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

Houy, S., Groffen, A. J., Ziomkiewicz, I., Verhage, M., Pinheiro, P. S. & Sørensen, J. B., 23 Dec 2017, In : eLife. 6

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Synaptotagmin I
SNARE Proteins
Calcium
Sensors
Synaptotagmins

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

Geerts, C. J., Mancini, R., Chen, N., Koopmans, F. T. W., Li, K. W., Smit, A. B., van Weering, J. R. T., Verhage, M. & Groffen, A. J. A., 2017, In : PLoS ONE. 12, 7, p. e0180912

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
SNARE Proteins
secretory granules
Secretory Vesicles
Neurons
Synaptotagmin I

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

van Rootselaar, A-F., Groffen, A. J., de Vries, B., Callenbach, P. M. C., Santen, G. W. E., Koelewijn, S., Vijfhuizen, L. S., Buijink, A., Tijssen, M. A. J. & van den Maagdenberg, A. M. J. M., 5 Dec 2017, In : Neurology. 89, 23, p. 2341-2350 10 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Myoclonic Epilepsy
Catenins
Missense Mutation
Purkinje Cells
Genes
2016

Direct Quantitative Detection of Doc2b-Induced Hemifusion in Optically Trapped Membranes

Brouwer, I., Giniatullina, A., Laurens, N., van Weering, J. R. T., Bald, D., Groffen, A. J. A. & Wuite, G. J. L., 2016, In : Biophysical Journal. 110, 3, p. 520A-520A

Research output: Contribution to JournalMeeting AbstractOther research output

Open Access
2015

C2 Domain Function in Healthy and Diseased Brain

Giniatullina, A., 2015

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File

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

Brouwer, I., Giniatullina, A., Laurens, N., van Weering, J. R. T., Bald, D., Wuite, G. J. L. & Groffen, A. J. A., 2015, In : Nature Communications. 6, p. 8387 8387.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
membranes
Membranes
SNARE Proteins
secretions
Phosphatidylserines

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

Giniatullina, A., Maroteaux, G. P., Geerts, C. J., Koopmans, B., Loos, M., Klaassen, R. V., Chen, N., van der Schors, R. C., van Nierop, P., Li, K. W., de Jong, A. P. H., Altrock, W. D., Cornelisse, L. N., Toonen, R. F. G., van der Sluis, S., Sullivan, P. F., Stiedl, O., Posthuma, D., Smit, A. B., Groffen, A. J. A. & 1 othersVerhage, M., 2015, In : Neuroscience. 300, p. 518-538

Research output: Contribution to JournalArticleAcademicpeer-review

Major Depressive Disorder
Phenotype
Calcium
Genetic Heterogeneity
Synaptic Vesicles

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

Tan-Sindhunata, M. B., Matthijssen, I. B., Smit, M., Baas, F., de Vries, J. I. P., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E. A., Heijboer-Meijers, J. E., Waisfisz, Q., Weiss, M. M. & Groffen, A. J. A., 2015, In : European Journal of Human Genetics. 23, 9, p. 1151-1157

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Mutation
Fetus
Protein-Tyrosine Kinases
Motor Endplate
Genes

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

Geerts, C. J., Plomp, J. J., Koopmans, B., Loos, M., van der Pijl, EM., van der Valk, M. A., Verhage, M. & Groffen, A. J. A., 2015, In : Brain Structure and Function. 220, 4, p. 1971-1982

Research output: Contribution to JournalArticleAcademicpeer-review

Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins
Motor Endplate
SNARE Proteins
Synaptic Transmission
Nervous System

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

Beunders, G., de Munnik, S. A., van der Aa, N. E., Ceulemans, B., Voorhoeve, E., Groffen, A. J. A., Nillesen, W. M., Meijers-Heijboer, E. J., Kooy, F. R., Yntema, H. G. & Sistermans, E. A., 2015, In : European Journal of Human Genetics. 23, 6, p. 803-807

Research output: Contribution to JournalArticleAcademicpeer-review

Base Pairing
Exons
Microcephaly
Low Birth Weight Infant
Intellectual Disability
2014

Direct Visualization and Quantification of Doc2B-Mediated Membrane Fusion

Brouwer, I., Giniatullina, A., Laurens, N., Groffen, A. J. A. & Wuite, G. J. L., 2014, In : Biophysical Journal. 106, 2, p. 517A-517A

Research output: Contribution to JournalMeeting AbstractOther research output

Open Access

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

Li, J., Cantley, J., Burchfield, J. G., Meoli, C. C., Stöckli, J., Whitworth, P. T., Pant, H., Chaudhuri, R., Groffen, A. J. A., Verhage, M. & James, D. E., 2014, In : Diabetologia. 57, 10, p. 2173-2182

Research output: Contribution to JournalArticleAcademicpeer-review

Protein Isoforms
Insulin
Glucose
Transport Vesicles
Exocytosis

Function of Tomosyn-1 and -2 in the Mammalian Nervous System

Geerts, C. J., 2014

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File

Tomosyn Interacts with the SUMO E3 Ligase PIAS gamma

Geerts, C. J., Jacobsen, L., van de Bospoort, R., Verhage, M. & Groffen, A. J. A., 2014, In : PLoS ONE. 9, 3, p. e91697 e91697.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Ubiquitin-Protein Ligases
modifiers (genes)
ubiquitin
Ubiquitin
ligases
2013

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

Pinheiro, P. S., de Wit, H., Walter, A. M., Groffen, A. J. A., Verhage, M. & Sørensen, J. B., 2013, In : Journal of Neuroscience. 33, 42, p. 16459-16470

Research output: Contribution to JournalArticleAcademicpeer-review

Chromaffin Cells
Exocytosis
Synaptotagmin I
Synaptotagmins
Calcium

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., van de Kamp, J. M., Nieuwint, A. W. M., Weiss, M. M., Rizzu, P., Verwer, L. E. N. I., van Spaendonk, R. M. L., Shen, Y. P., Wu, B. L., Yu, T. T., Yu, Y. G. & 43 othersChiang, C., Gusella, J. F., Lindgren, A. M., Morton, C. C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S. M., Greenhalgh, L., Maye, U., Neill, N. J., Abbott, K. M., Sell, S., Ladda, R., Farber, D. M., Bader, P. I., Cushing, T., Drautz, J. M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M. T., Hopkins, E., Marshall, C. R., Osborne, L. R., Gripp, K. W., Thrush, D. L., Hashimoto, S., Gastier-Foster, J. M., Astbury, C., Ylstra, B., Meijers-Heijboer, E. J., Posthuma, D., Menten, B., Mortier, G., Scherer, S. W., Eichler, E. E., Girirajan, S., Katsanis, N., Groffen, A. J. A. & Sistermans, E. A., 2013, In : American Journal of Human Genetics. 92, 2, p. 210-220

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Microcephaly
Zebrafish
Autistic Disorder
Intellectual Disability
Protein Isoforms

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

Groffen, A. J. A., Klapwijk, T., van Rootselaar, A. F., Groen, J. L. & Tijssen, M. A., 2013, In : Journal of Neurology. 260, 1, p. 93-99

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Chorea
Genetic Heterogeneity
Mutation
Dyskinesias
Movement Disorders

TRIM3 Regulates the Motility of the Kinesin Motor Protein KIF21B

Labonté, D., Thies, E., Pechmann, Y., Groffen, A. J. A., Verhage, M., Smit, A. B., van Kesteren, R. E. & Kneussel, M., 2013, In : PLoS ONE. 8, 9, p. e75603 e75603.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Kinesin
kinesin
Ubiquitin-Protein Ligases
Microtubules
Molecular Motor Proteins
2012

Doc2b Is a Key Effector of Insulin Secretion and Skeletal Muscle Insulin Sensitivity

Ramalingam, L., Oh, E., Yoder, S. M., Brozinick, J. T., Kalwat, M. A., Groffen, A. J. A., Verhage, M. & Thurmond, D. C., 2012, In : Diabetes. 61, 10, p. 2424-2432

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Exocytosis
Insulin Resistance
Munc18 Proteins
Skeletal Muscle
Insulin

Paroxysmal kinesigenic dyskinesia: Cortical or non-cortical origin

van Strien, T. W., van Rootselaar, A. F., Hilgevoord, A. A. J., Linssen, W. H. J. P., Groffen, A. J. A. & Tijssen, M. A. J., 2012, In : Parkinsonism and Related Disorders. 18, 5, p. 645-648

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
Seizures
Chorea
Dystonia
Electroencephalography
Leg
2011

Deletion of Munc18-1 in 5-HT Neurons Results in Rapid Degeneration of the 5-HT System and Early Postnatal Lethality

Dudok, J. J., Groffen, A. J. A., Toonen, R. F. G. & Verhage, M., 2011, In : PLoS ONE. 6, 11, e28137.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File
serotonin
Neurons
Serotonin
neurons
mice

Multiple Ca(2+) sensors in secretion: teammates, competitors or autocrats?

Walter, A. M., Groffen, A. J. A., Sorensen, J. B. & Verhage, M., 2011, In : Trends in Neurosciences. 34, 9, p. 487-497

Research output: Contribution to JournalArticleAcademicpeer-review

Neurotransmitter Agents
2010

Cellular characterization of the outgrowth and connectivity of the brain serotonin system

Dudok, J. J., 2010, 165 p.

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

Open Access
File

Doc2b is a high-affinity Ca2+ sensor for spontaneous neurotransmitter release

Groffen, A. J. A., Martens, S., Diez Arazola, R., Cornelisse, L. N., Lozovaya, N., de Jong, A. P. H., Goriounova, N. A., Habets, R. L., Takai, Y., Borst, J. G., Brose, N., McMahon, H. T. & Verhage, M., 2010, In : Science. 327, 5973, p. 1614-1618 4 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Action Potentials
Neurotransmitter Agents
Synaptotagmin II
Synaptotagmin I
Synaptic Vesicles
2009

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

Dudok, J. J., Groffen, A. J. A., Witter, M. P., Voorn, P. & Verhage, M., 2009, In : Brain Research. 1302, p. 1-9 8 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File
Serotonin 5-HT2 Receptors
Neurites
Serotonin
Serotonin Receptor Agonists
Serotonin Plasma Membrane Transport Proteins
2008

DOC2B acts as a calcium switch and enhances vesicle fusion

Friedrich, R., Groffen, A. J. A., Connell, E., van Weering, J. R. T., Gotman, O., Henis, Y. I., Davletov, B. & Ashery, U., 2008, In : Journal of Neuroscience. 28, p. 6794-6806 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File
Cell Membrane
Calcium
Exocytosis
Catecholamines
Proteins
2006

Characterization of presynaptic targets for Ca2+-dependent regulation of secretation

Brian, E. C., 2006

Research output: PhD ThesisPhD Thesis - Research VU, graduation VUAcademic

DOC2A and DOC2B are sensors for neuronal activity with unique calcium-dependent and kinetic properties

Groffen, A. J. A., Friedrich, R., Brian, E. C., Ashery, U. & Verhage, M., 2006, In : Journal of Neurochemistry. 97, 3, p. 818-833 16 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Calcium
Kinetics
Sensors

Regulation of SNARE Complex Assembly by Second Messengers: Roles of Phospholipases, Munc13 and Munc18

Groffen, A. J. A. & Verhage, M., 2006, Molecular Mechanisms of Exocytosis. Regazzi, R. (ed.). Austin, Texas, USA: Landes Bioscience, 178 p.

Research output: Chapter in Book / Report / Conference proceedingChapterAcademic

2005

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

Groffen, A. J. A., Jacobsen, L., Schut, D. & Verhage, M., 2005, In : Journal of Neurochemistry. 92, 3, p. 554-568 15 p.

Research output: Contribution to JournalArticleAcademicpeer-review

SNARE Proteins
Brain
Protein Isoforms
Genes
Gene Expression
2004

Ca2+-induced recruitment of the secretory vesicle protein DOC2B to the target membrane

Groffen, A. J. A., Brian, E. C., Dudok, J. J., Kampmeijer, J., Toonen, R. F. G. & Verhage, M., 2004, In : Journal of Biological Chemistry. 279, p. 23740-23747 8 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Open Access
File
Secretory Vesicles
Membranes
Proteins

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

Kolk, S. M., Groffen, A. J. A., Tuinhof, R., Ouwens, D. T. W. M., Cools, A. R., Jenks, B. G., Verhage, M. & Roubos, E. W., 2004, In : Neuroscience. 128, p. 531-543 13 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Synaptosomal-Associated Protein 25
Pituitary Gland
Xenopus
Protein Isoforms
Messenger RNA
2001

Decreased glomerular expression of agrin in diabetic nephropathy and podocytes, cultured in high glucose medium

Yard, B. A., Kahlert, S., Engelleiter, R., Resch, S., Waldherr, R., Groffen, A. J., Van Den Heuvel, L. P. W. J., van den Born, J., Berden, J. H. M., Kröger, S., Hafner, M. & Van Der Woude, F. J., 2001, In : Experimental Nephrology. 9, 3, p. 214-222 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Agrin
Podocytes
Diabetic Nephropathies
Glucose
Heparan Sulfate Proteoglycans
1999

Recent insights into the structure and functions of heparan sulfate proteoglycans in the human glomerular basement membrane

Groffen, A. J. A., Veerkamp, J. H., Monnens, L. A. H. & Van Den Heuvel, L. P. W. J., 1999, In : Nephrology, Dialysis, Transplantation. 14, 9, p. 2119-2129 11 p.

Research output: Contribution to JournalReview articleAcademicpeer-review

Heparan Sulfate Proteoglycans
Glomerular Basement Membrane
Agrin
Permeability
Heparitin Sulfate
1998

Agrine, een belangrijke component van de glomerulaire basaalmembraan

Groffen, A. J. A., Buskens, C. A. F., Ruegg, M. A., Dijkman, H., Veerkamp, J. H., Monnens, L. A. H. & Van Den Heuvel, L. P. W. J., 1998, In : Tijdschrift voor Kindergeneeskunde. 66, SUPPL. 1, p. 24-25 2 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Agrin is a major heparan sulfate proteoglycan in the human glomerular basement membrane

Groffen, A. J., Ruegg, M. A., Dijkman, H., Van De Velden, T. J., Buskens, C. A., Van Den Born, J., Assmann, K. J., Monnens, L. A., Veerkamp, J. H. & Van Den Heuvel, L. P., Jan 1998, In : The Journal of Histochemistry and Cytochemistry. 46, 1, p. 19-27 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Agrin
Heparan Sulfate Proteoglycans
Glomerular Basement Membrane
Neuromuscular Junction
Basement Membrane

De structuur en ontogenie van type IV collageen ketens in de glomerulaire basaalmembraan (GBM)

Lemmink, H., Van Der Loop, F. T., Schröder, C. H., Van Den Heuvel, L. P., Smeets, H. J., Knoers, N. V. A. M., Groffen, A. J. A. & Monnens, L. A., 1998, In : Tijdschrift voor Kindergeneeskunde. 66, SUPPL. 1, p. 44-45 2 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Differential expression of agrin in renal basement membranes as revealed by domain-specific antibodies

Ilse Raats, C. J., Bakker, M. A. H., Hoch, W., Tamboer, W. P. M., Groffen, A. J. A., Van Den Heuvel, L. P. W. J., Berden, J. H. M. & Van Den Born, J., 10 Jul 1998, In : Journal of Biological Chemistry. 273, 28, p. 17832-17838 7 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Agrin
Basement Membrane
Kidney
Antibodies
Glomerular Basement Membrane

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

Groffen, A. J. A., Buskens, C. A. F., Van Kuppevelt, T. H., Veerkamp, J. H., Monnens, L. A. H. & Van Den Heuvel, L. P. W. J., 15 May 1998, In : European Journal of Biochemistry. 254, 1, p. 123-128 6 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Agrin
Basement Membrane
Kidney
Lung
Neuromuscular Junction
1997

Evidence for the existence of multiple heparan sulfate proteoglycans in the human glomerular basement membrane and mesangial matrix

Groffen, A. J. A., Hop, F. W. H., Tryggvason, K., Dijkman, H., Assmann, K. J. M., Veerkamp, J. H., Monnens, L. A. H. & Van Den Heuvel, L. P. W. J., 1997, In : European Journal of Biochemistry. 247, 1, p. 175-182 8 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Heparan Sulfate Proteoglycans
Glomerular Basement Membrane
Staining and Labeling
Basement Membrane
Experimental Sarcomas
1996

Expression and characterization of human perlecan domains I and II synthesized by baculovirus-infected insect cells

Groffen, A. J. A., Buskens, C. A. F., Tryggvason, K., Veerkamp, J. H., Monnens, L. A. H. & Van Den Heuvel, L. P. W. J., 1996, In : European Journal of Biochemistry. 241, 3, p. 827-834 8 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Baculoviridae
Insects
Peptides
Chondroitin Sulfates
Glycosaminoglycans
1995

Characterization of Baculovirus Insecticides Expressing Tailored Bacillus thuringiensis CryIA(b) Crystal Proteins

Martens, J. W. M., Knoester, M., Weijts, F., Groffen, S. J. A., Hu, Z., Bosch, D. & Vlak, J. M., Nov 1995, In : Journal of Invertebrate Pathology. 66, 3, p. 249-257 9 p.

Research output: Contribution to JournalArticleAcademicpeer-review

crystal proteins
Baculoviridae
Autographa californica multiple nucleopolyhedrovirus
Bacillus thuringiensis
toxin
1993

ΦF1 and ΦF3, two novel virulent, archaeal phages infecting different thermophilic strains of the genus Methanobacterium

Nolling, J., Groffen, A. & Vos, W. M., 1993, In : Journal of General Microbiology. 139, 10, p. 2511-2516 6 p.

Research output: Contribution to JournalArticleAcademicpeer-review

Methanobacterium
Bacteriophages
Genome
DNA
DNA Restriction-Modification Enzymes