List of works - Annette Schenck

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

scientific article

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

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

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

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

scientific article

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

scientific article published on 12 May 2015

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

scientific article published in December 2014

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

scientific article published on 30 April 2012

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

scientific article published in January 2000

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

scientific article

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

scientific article

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

scientific article published on 10 April 2013

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

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

scientific article published on 22 August 2011

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

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

Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila

scientific article published on 12 February 2019

Converging evidence does not support GIT1 as an ADHD risk gene

scientific article

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

scientific article

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

scientific article published on March 2016

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

scientific article

Drosophila Courtship Conditioning As a Measure of Learning and Memory

scientific article published on 05 June 2017

Drosophila models of early onset cognitive disorders and their clinical applications

scientific article published on 21 March 2014

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

scientific article

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

scholarly article published in Nature Cell Biology

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

scientific article published on 9 February 2005

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

scientific article published on 27 March 2018

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

scientific article published on 25 October 2017

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

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Genome sequencing identifies major causes of severe intellectual disability

scientific article

HSPC300 and its role in neuronal connectivity.

scientific article

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

scientific article published on 5 November 2017

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

scientific article

Human intellectual disability genes form conserved functional modules in Drosophila.

scientific article

Integrative network and brain expression analysis reveals mechanistic modules in ataxia

scientific article published on 27 December 2018

Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila

scientific article published on 13 May 2019

Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics

scientific article published on 07 February 2015

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

scientific article

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

scientific article published on 29 April 2012

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

scientific article

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

scientific article published in October 2002

O-GlcNAcase contributes to cognitive function in Drosophila

scientific article published on 24 February 2020

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology

scientific article published in Nature

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

scientific article

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

scientific article

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

scientific article published in September 2013

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

scientific article

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

scientific article

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

scientific article published on 13 February 2017

The Fragile X mental retardation protein ⬇️

scientific article published on November 1, 2001

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

scientific article published in May 2008

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

scientific article

The genetics of cognitive epigenetics.

scientific article published on 13 January 2014

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

scientific article published on 12 March 2019

Transcriptional regulation of glial cell specification

scientific article published in March 2003

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

scientific article published on 3 May 2017

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

scientific article

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

scientific article

List of works by Annette Schenck

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

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

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

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

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

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

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

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

Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12.

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

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

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

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

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

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

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

Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila

Converging evidence does not support GIT1 as an ADHD risk gene

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

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

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

Drosophila Courtship Conditioning As a Measure of Learning and Memory

Drosophila models of early onset cognitive disorders and their clinical applications

Epigenetic regulation of learning and memory by Drosophila EHMT/G9a

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

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

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model

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

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

GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia

Genome sequencing identifies major causes of severe intellectual disability

HSPC300 and its role in neuronal connectivity.

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

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

Human intellectual disability genes form conserved functional modules in Drosophila.

Integrative network and brain expression analysis reveals mechanistic modules in ataxia

Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila

Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics

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

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

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

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

O-GlcNAcase contributes to cognitive function in Drosophila

Phosphorylation of WAVE1 regulates actin polymerization and dendritic spine morphology

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

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

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

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

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

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

The Fragile X mental retardation protein ⬇️

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

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

The genetics of cognitive epigenetics.

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

Transcriptional regulation of glial cell specification

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

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

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