Annette Schenck

Department of Human Genetics, Radboud university medical center

Affiliated withRadboud university medical center Radboud University

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JoVE Journal Publications

ArticleTotal : 3	Year
Publication title Cited by 10	2017
Publication title Cited by 60	2017
Publication title Cited by 10	2017

Other Publications

Article	Year
Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner. Nature neuroscience\| PubMed ID: 23995066	2013
Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein. Neurobiology of disease\| PubMed ID: 12460546	2002
Transcriptional regulation of glial cell specification. Developmental biology\| PubMed ID: 12618139	2003
CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron\| PubMed ID: 12818175	2003
82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Human molecular genetics\| PubMed ID: 12837692	2003
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Experimental cell research\| PubMed ID: 12941608	2003
CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion. European journal of immunology\| PubMed ID: 15048733	2004
WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Developmental biology\| PubMed ID: 15385157	2004
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Human molecular genetics\| PubMed ID: 15703194	2005
Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology. Nature\| PubMed ID: 16862120	2006
HSPC300 and its role in neuronal connectivity. Neural development\| PubMed ID: 17894861	2007
The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development. Cell\| PubMed ID: 18455989	2008
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Human molecular genetics\| PubMed ID: 19336477	2009
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American journal of human genetics\| PubMed ID: 19896112	2009
Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN. Nature cell biology\| PubMed ID: 20228810	2010
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Human genetics\| PubMed ID: 20563892	2010
Epigenetic regulation of learning and memory by Drosophila EHMT/G9a. PLoS biology\| PubMed ID: 21245904	2011
CYFIP dependent actin remodeling controls specific aspects of Drosophila eye morphogenesis. Developmental biology\| PubMed ID: 21884694	2011
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature genetics\| PubMed ID: 22544363	2012
Analysis of adhesion molecules and basement membrane contributions to synaptic adhesion at the Drosophila embryonic NMJ. PloS one\| PubMed ID: 22558441	2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability. American journal of human genetics\| PubMed ID: 22726846	2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England)\| PubMed ID: 23020937	2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. American journal of human genetics\| PubMed ID: 23176823	2012
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. Human molecular genetics\| PubMed ID: 23390136	2013
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. Human molecular genetics\| PubMed ID: 23575228	2013
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila. Journal of medical genetics\| PubMed ID: 23644463	2013
Human intellectual disability genes form conserved functional modules in Drosophila. PLoS genetics\| PubMed ID: 24204314	2013
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability. PloS one\| PubMed ID: 24303071	2013
The genetics of cognitive epigenetics. Neuropharmacology\| PubMed ID: 24434855	2014
Drosophila models of early onset cognitive disorders and their clinical applications. Neuroscience and biobehavioral reviews\| PubMed ID: 24661984	2014
Genome sequencing identifies major causes of severe intellectual disability. Nature\| PubMed ID: 24896178	2014
Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila. Human mutation\| PubMed ID: 25224183	2014
Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics. The international journal of biochemistry & cell biology\| PubMed ID: 25666557	2015
The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila. PLoS pathogens\| PubMed ID: 25880195	2015
Converging evidence does not support GIT1 as an ADHD risk gene. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 26061966	2015
Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration. Human molecular genetics\| PubMed ID: 26376863	2015
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules. American journal of human genetics\| PubMed ID: 26748517	2016
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. European journal of human genetics : EJHG\| PubMed ID: 26757981	2016
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. American journal of human genetics\| PubMed ID: 26942287	2016
A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry. PLoS computational biology\| PubMed ID: 26998933	2016
BOD1 Is Required for Cognitive Function in Humans and Drosophila. PLoS genetics\| PubMed ID: 27166630	2016
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy. Disease models & mechanisms\| PubMed ID: 28067622	2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nature genetics\| PubMed ID: 28191889	2017