Annette Schenck

SysNDD: A Systematic Database for Neurodevelopmental Disorders

SysNDD is a curated database of gene-disease associations for neurodevelopmental disorders, providing standardized evidence and annotations for 4,275 entities from 4,932 publications.

Excessive activation of the RAS/MAPK pathway triggers adult-onset motor axonal degeneration

This study identifies excessive RAS/MAPK pathway activation as a cause of adult-onset motor axonal degeneration in Drosophila, showing that inhibiting the pathway can rescue neurodegenerative phenotypes.

The evolutionarily conserved EHMT1/G9a histone methyltransferase family regulates sleep maintenance through ROS homeostasis in insulin-producing cells

This study identifies EHMT1/G9a's role in sleep regulation through ROS homeostasis in insulin-producing cells, linking it to sleep disturbances in Kleefstra syndrome and common insomnia.

Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome FDG-PET/CT imaging and Drosophila modelling

This study links metabolic vulnerability and sleep disturbances in Kleefstra syndrome using FDG-PET/CT imaging and Drosophila models.

Polyamine dysregulation converges with RASopathies on RAS/MAPK and sensory processing phenotypes in Drosophila

The paper identifies polyamine metabolism genes that converge with RASopathies on RAS/MAPK and sensory processing phenotypes in Drosophila.

A conserved epilepsy-associated gene co-expression module identifies increased metabolic rate as a shared pathomechanism

The paper identifies a conserved gene co-expression module in Drosophila linked to epilepsy, showing metabolic rate and AMPK activity influence seizure susceptibility.

Intellectual disability-associated disruption of O-GlcNAcylation impairs neuronal development and cognitive function in Drosophila

This study shows that OGT mutations impair cognitive function in Drosophila by disrupting O-GlcNAcylation, and that blocking OGA can correct the deficit.

Intellectual Disability-related genes increase ADHD risk and locomotor activity in Drosophila

This study identifies ADHD risk genes by linking ID-related genes to ADHD through common variants and validates their role in Drosophila behavior.

From rare Copy Number Variations to biological processes in ADHD

This study identifies high-priority ADHD candidate genes by integrating rare CNV data with bioinformatics methods and finds shared genes with common variants.

A hundred genes implicated in intellectual disability and autism regulate habituation learning and reveal an opposing role for Ras-MAPK signaling in inhibitory and excitatory neurons

The paper identifies over 100 genes linked to intellectual disability and autism that regulate habituation learning, revealing opposing roles for Ras-MAPK signaling in inhibitory and excitatory neurons.

Integrative Network and Brain Expression Analysis reveals Mechanistic Modules in Ataxia

The paper identifies mechanistic modules in ataxia by analyzing gene networks, expression patterns, and functional enrichment, revealing roles in neuronal homeostasis and stress responses.