Alexander J A Groffen
Overview
Explore the profile of Alexander J A Groffen including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
14
Citations
198
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Tuijnenburg F, Proost V, Thollet A, Barc J, Groffen A, Veerman C, et al.
Heart Rhythm
. 2024 Nov;
PMID: 39491571
Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown. Objective: This study aimed to evaluate the long-term arrhythmic risk in...
2.
Subkhangulova A, Gonzalez-Lozano M, Groffen A, van Weering J, Smit A, Toonen R, et al.
Elife
. 2023 Sep;
12.
PMID: 37695731
Tomosyn is a large, non-canonical SNARE protein proposed to act as an inhibitor of SNARE complex formation in the exocytosis of secretory vesicles. In the brain, tomosyn inhibits the fusion...
3.
Deurloo M, Turlova E, Chen W, Lin Y, Tam E, Tassew N, et al.
Mol Neurobiol
. 2018 Aug;
56(5):3313-3325.
PMID: 30120731
Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7q11.23) are neurodevelopmental disorders caused by the deletion and duplication, respectively, of ~ 25 protein-coding genes on chromosome 7q11.23. The general transcription factor...
4.
Geerts C, Mancini R, Chen N, Koopmans F, Li K, Smit A, et al.
PLoS One
. 2017 Jul;
12(7):e0180912.
PMID: 28746398
The secretory pathway in neurons requires efficient targeting of cargos and regulatory proteins to their release sites. Tomosyn contributes to synapse function by regulating synaptic vesicle (SV) and dense-core vesicle...
5.
Li J, Cantley J, Burchfield J, Meoli C, Stockli J, Whitworth P, et al.
Diabetologia
. 2014 Jul;
57(10):2173-82.
PMID: 25005332
Aims/hypothesis: Glucose-stimulated insulin secretion (GSIS) and insulin-stimulated glucose uptake are processes that rely on regulated intracellular vesicle transport and vesicle fusion with the plasma membrane. DOC2A and DOC2B are calcium-sensitive...
6.
Geerts C, Plomp J, Koopmans B, Loos M, van der Pijl E, van der Valk M, et al.
Brain Struct Funct
. 2014 Apr;
220(4):1971-82.
PMID: 24744148
Tomosyn-1 (STXBP5) is a soluble NSF attachment protein receptor complex-binding protein that inhibits vesicle fusion, but the role of tomosyn-2 (STXBP5L) in the mammalian nervous system is still unclear. Here...
7.
Geerts C, Jacobsen L, van de Bospoort R, Verhage M, Groffen A
PLoS One
. 2014 Mar;
9(3):e91697.
PMID: 24614299
Protein modification by Small Ubiquitin-like MOdifier (SUMO) entities is involved in a number of neuronal functions, including synaptogenesis and synaptic plasticity. Tomosyn-1 (syntaxin-binding protein 5; STXPB5) binds to t-SNARE (Soluble...
8.
Groffen A, Klapwijk T, van Rootselaar A, Groen J, Tijssen M
J Neurol
. 2012 Jul;
260(1):93-9.
PMID: 22752065
Paroxysmal dyskinesia (PxD) is a group of movement disorders characterized by recurrent episodes of involuntary movements. Familial paroxysmal kinesigenic dyskinesia (PKD) is caused by PRRT2 mutations, but a distinct etiology...
9.
van Strien T, van Rootselaar A, Hilgevoord A, Linssen W, Groffen A, Tijssen M
Parkinsonism Relat Disord
. 2012 Apr;
18(5):645-8.
PMID: 22464846
Paroxysmal kinesigenic dyskinesia (PKD) is characterized by involuntary dystonia and/or chorea triggered by a sudden movement. Cases are usually familial with an autosomal dominant inheritance. Hypotheses regarding the pathogenesis of...
10.
Dudok J, Groffen A, Toonen R, Verhage M
PLoS One
. 2011 Dec;
6(11):e28137.
PMID: 22140524
The serotonin (5-HT) system densely innervates many brain areas and is important for proper brain development. To specifically ablate the 5-HT system we generated mutant mice carrying a floxed Munc18-1...