Peter Penzes

This study identifies TDP-43-dependent cryptic splicing events in synaptic and membrane excitability genes and shows they drive neuronal dysfunction in ALS and FTD.

This study investigates the impact of the 16p11.2 duplication on neuronal structure and homeostatic plasticity in a mouse model, finding impaired synaptic upscaling and excessive GluA1 surface abundance.

This study identifies a soluble synaptic protein, 2{delta}-1, reduced in schizophrenia CSF, which enhances neuronal network dynamics and cognitive function when administered to a mouse model.

This study shows that ASD-associated CNTNAP2 variants reduce sCNTNAP2 levels and impair dendritic arborization through disrupted ectodomain shedding.

This study shows that palmitoylation of AnkG-190 stabilizes its localization in dendritic spines, and lithium reduces this modification, affecting its function and interaction with PSD-95.

This study identifies PRRT2 as a key hub in an epilepsy network disrupted by 16p11.2 duplication and shows its correction rescues multiple neuropsychiatric and seizure-related phenotypes in mice.

This study identifies impaired OTUD7A-Ankyrin regulation as a mechanism underlying neuronal dysfunction in 15q13.3 microdeletion syndrome using mouse and human models.

The paper identifies multiple genes in cis regulated by a chromatin accessibility variant that contribute to synaptic dysfunction in human neurons associated with schizophrenia.

This paper shows a Kalirin mutation enhances RhoA signaling, causing dendritic regression in mice during adolescence, linking it to schizophrenia-like structural impairments.

This study investigates how KCNQ2 mutations affect neuronal excitability in patient-derived neurons, finding progressive hyperexcitability and altered firing patterns linked to impaired M-current.

This study shows that estradiol restores dendritic spine density in a cellular model of schizophrenia and depression by modulating DISC1 function and synaptic protein distribution.

This study identifies Par3 as a binding partner of CNTNAP2, showing that Par3 localizes CNTNAP2 to endosomes and stabilizes its presence there.

The paper uses advanced microscopy techniques to study dynamic properties of dendritic spinules in live neurons, identifying distinct classes with different lifespans and regulatory mechanisms.

This study shows that EPAC2 is required for CRH-induced dendritic spine loss in cortical neurons.

This study shows that loss of EPAC2 alters synaptic composition and disrupts the balance between excitatory and inhibitory synapses in cortical neurons.

This study shows that disrupting the ANK3 gene in mice affects microtubule dynamics via GSK3/CRMP2 signaling, linking it to psychiatric illness mechanisms.