Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

Elena Ambrosini, Federico Sicca, Maria Stefania Brignone, +19

Human Molecular Genetics

Smad4 controls signaling robustness and morphogenesis by differentially contributing to the Nodal and BMP pathways

Luca Guglielmi, Claire Heliot, Sunil Kumar, +9

Nature Communications

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Maria Cristina D’Adamo, Constanze Gallenmà ⁄ ller, Ilenio Servettini, +13

Frontiers in Physiology

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, +21

Molecular Genetics and Metabolism

Metabolic SyndromeCutis LaxaNew PatientMetabolic DisorderPancreatic Cancer +10

An improved Erk biosensor detects oscillatory Erk dynamics driven by mitotic erasure during early development

Scott G. Wilcockson, Luca Guglielmi, Pablo Araguas Rodriguez, +2

Developmental Cell

Nodal signaling establishes a competency window for stochastic cell fate switching

Andrew D. Economou, Luca Guglielmi, Philip East, +1

Developmental Cell

Temporal control of Wnt signaling is required for habenular neuron diversity and brain asymmetry

Luca Guglielmi, Anja Bühler, Enrico Moro, +2

Development

Brain MechanismNeurotransmissionCellular NeurobiologySynaptic SignalingCellular Physiology +23

QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis

Maximilian Breuer, Luca Guglielmi, Matthias Zielonka, +6

PLoS ONE

Molecular RegulationGeneticsNeurochemical BiomarkersGlutamine HomeostasisOptogenetics +20

An activator of voltage-gated K ⁺ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1

Ilenio Servettini, Giuseppe Talani, Alfredo Megaro, +18

Proceedings of the National Academy of Sciences

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release

Maria Cristina D’Adamo, Luigi Sforna, Sergio Visentin, +13

PLoS ONE

Skeletal Muscle CellsCardiac MuscleMuscle FunctionEngineeringImmunology +16