Evangelos Kiskinis

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

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.

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.

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.

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

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.

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

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

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.

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.

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.

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

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.

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.