List of works - Annette Schenck

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

scientific article

Genome sequencing identifies major causes of severe intellectual disability

scientific article

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

scientific article

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology

scientific article published in Nature

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

scientific article published in June 2003

The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development

scientific article published in May 2008

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

scientific article

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

scientific article published on 9 February 2005

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

scientific article

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

scientific article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

scientific article published on 29 April 2012

Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner

scientific article published in September 2013

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

scientific article

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

scientific article

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN.

scientific article

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

scientific article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila

scientific article published on 12 May 2015

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

scientific article

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

scientific article

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

scientific article

The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila

scientific article

The Fragile X mental retardation protein

scientific article published on November 1, 2001

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

scientific article published on 4 May 2013

Drosophila models of early onset cognitive disorders and their clinical applications

scientific article published on 21 March 2014

The genetics of cognitive epigenetics.

scientific article published on 13 January 2014

Human intellectual disability genes form conserved functional modules in Drosophila.

scientific article

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

scientific article

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

scientific article published on 25 October 2017

Transcriptional regulation of glial cell specification

scientific article published in March 2003

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

scientific article published on 10 April 2013

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

scientific article

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

scientific article

HSPC300 and its role in neuronal connectivity.

scientific article

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila

scientific article published in December 2014

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein

scientific article published in October 2002

A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry

scientific article

Converging evidence does not support GIT1 as an ADHD risk gene

scientific article

Drosophila Courtship Conditioning As a Measure of Learning and Memory

scientific article published on 05 June 2017

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability

scientific article

Analysis of adhesion molecules and basement membrane contributions to synaptic adhesion at the Drosophila embryonic NMJ.

scientific article published on 30 April 2012

CYFIP dependent actin remodeling controls specific aspects of Drosophila eye morphogenesis.

scientific article published on 22 August 2011

Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.

scientific article published on 3 May 2017

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

scientific article

The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption

scientific article published on 12 March 2019

High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay.

scientific article published on 5 November 2017

List of works by Annette Schenck

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Genome sequencing identifies major causes of severe intellectual disability

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

The endosomal protein Appl1 mediates Akt substrate specificity and cell survival in vertebrate development

CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

Restoring polyamines protects from age-induced memory impairment in an autophagy-dependent manner

A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin-AP-1-coated carrier biogenesis at the TGN.

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

ADHD-associated dopamine transporter, latrophilin and neurofibromin share a dopamine-related locomotor signature in Drosophila

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes

The epigenetic regulator G9a mediates tolerance to RNA virus infection in Drosophila

The Fragile X mental retardation protein

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.

Drosophila models of early onset cognitive disorders and their clinical applications

The genetics of cognitive epigenetics.

Human intellectual disability genes form conserved functional modules in Drosophila.

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Transcriptional regulation of glial cell specification

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration

HSPC300 and its role in neuronal connectivity.

Altered GPM6A/M6 dosage impairs cognition and causes phenotypes responsive to cholesterol in human and Drosophila

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Novel features of dFMR1, the Drosophila orthologue of the fragile X mental retardation protein

A New Fiji-Based Algorithm That Systematically Quantifies Nine Synaptic Parameters Provides Insights into Drosophila NMJ Morphometry

Converging evidence does not support GIT1 as an ADHD risk gene

Drosophila Courtship Conditioning As a Measure of Learning and Memory

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability

Analysis of adhesion molecules and basement membrane contributions to synaptic adhesion at the Drosophila embryonic NMJ.

CYFIP dependent actin remodeling controls specific aspects of Drosophila eye morphogenesis.

Two Algorithms for High-throughput and Multi-parametric Quantification of Drosophila Neuromuscular Junction Morphology.

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

The histone methyltransferase G9a regulates tolerance to oxidative stress-induced energy consumption

High-throughput Analysis of Locomotor Behavior in the Drosophila Island Assay.