Evangelos Kiskinis

Allele-agnostic KCNH1 suppression rescues gain-of-function developmental epileptic encephalopathy

This study shows that suppressing KCNH1 rescues seizures and developmental issues caused by gain-of-function variants in KCNH1.

Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models

The paper uses machine learning to analyze iPSC-derived neurons from KCNQ2-DEE patients, identifying functional phenotypes and showing retigabine's variable efficacy in rescuing disease features.

A role for the spinal cord cholinergic neuron circadian clock in RNA metabolism and mediating ALS disease phenotypes

The paper shows that the circadian clock in spinal cord cholinergic neurons affects RNA metabolism and contributes to ALS disease phenotypes through rhythmic gene expression and alternative splicing.

Context-dependent Interactors Regulate TDP-43 Dysfunction in ALS/FTLD

The paper identifies context-dependent interactors of TDP-43 that regulate its dysfunction in ALS/FTLD using proximity labeling, mass spectrometry, and snRNA-seq integration.

The ALS-associated co-chaperone DNAJC7 mediates neuroprotection against proteotoxic stress by modulating HSF1 activity

This study identifies DNAJC7 as a mediator of neuroprotection in ALS by modulating HSF1 activity and shows that HSF1 expression can rescue proteotoxic stress in mutant DNAJC7 neurons.

SeqVerify: an accessible analysis tool for cell line genomic integrity, contamination, and gene editing outcomes

SeqVerify is a computational pipeline that analyzes whole genome sequencing data to verify gene editing outcomes and detect abnormalities in cell lines.

Neurotrauma-induced vulnerability of C9orf72 ALS iPSC-motor neurons revealed by biofidelic stretch injury

This study shows that C9orf72 ALS patient motor neurons are more vulnerable to trauma, with TDP-43 mislocalization and reduced recovery after repeated mild injuries.

Integrative Analysis of Epilepsy-Associated Genes Reveals Expression-Phenotype Correlations

The paper analyzes the expression patterns of epilepsy-associated genes across tissues and brain cell types, revealing distinct expression-phenotype correlations among gene classes.

ALS-Associated TDP-43 Dysfunction Compromises UPF1-Dependent mRNA Metabolism Pathways Including Alternative Polyadenylation and 3'UTR Length

The paper identifies UPF1 targets in motor neurons and shows TDP-43 dysfunction disrupts UPF1-mediated mRNA surveillance and 3'UTR regulation in ALS.

CLIP-Seq Analysis Enables the Design of Ribosomal RNA Bait Oligonucleotides That Protect Against C9orf72 ALS/FTD-Associated Poly-GR Pathophysiology

The paper identifies that poly-GR binds ribosomal RNA and shows that modified rRNA oligonucleotides can mitigate poly-GR toxicity in models of C9orf72 ALS/FTD.

A C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation

This study uses C. elegans models to show that eIF2D is essential for RAN translation in C9orf72 expansions, and its inhibition extends lifespan and reduces disease.

Impaired M-current in KCNQ2 Encephalopathy Evokes Dyshomeostatic Modulation of Excitability

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.

Nucleocytoplasmic Proteomic Analysis Uncovers eRF1 and Nonsense Mediated Decay as Modifiers of ALS C9orf72 Toxicity

The paper identifies eRF1 and NMD as modifiers of C9orf72 repeat expansion toxicity by analyzing nucleocytoplasmic proteomic changes in ALS/FTD.

All-optical electrophysiology for high-throughput functional characterization of human iPSC-derived motor neuron model of ALS

The paper introduces an all-optical electrophysiology method called Optopatch to functionally characterize human iPSC-derived motor neurons in ALS models, finding altered electrophysiological properties in SOD1 A4V mutants.

Modeling gene expression networks to predict interchromosomal organization during human embryonic stem cell differentiation

The paper models gene expression networks to predict interchromosomal organization during human embryonic stem cell differentiation and finds that coordinate gene regulation correlates with 3D chromosome organization.