Author

Manolis Fanto

King's College LondonORCID 0000-0001-7807-2563Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:Drosophila· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Heinz JungbluthiD· 3 shared Celine DeneubourgiD· 2 shared Hormos Salimi DafsariiD· 2 shared Adam AntebiiD· 1 shared Aitana Martinez-Cotrina· 1 shared Alessandro Ascani OrsiniiD· 1 shared Amber CollingwoodiD· 1 shared Amy ShakeshaftiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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3 shared papersNeuroscience

Heinz JungbluthORCID

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3 papers

Recent·Most cited

NeuroscienceNature CommunicationsPeer-reviewedMay 26, 2026

Pathogenic variants in autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation

Kritarth Singh, Hormos Salimi Dafsari, Olivia Gillham…·Michael R. Duchen

This study identifies EPG5 mutations causing neurodegeneration via mitochondrial dysfunction and innate immune activation in patient-derived cells.

4 citationstop 2%

humanbulk RNA-seq

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NeurosciencebioRxivPreprintApr 23, 2024

Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici Syndrome patients

Celine Deneubourg, Hormos Salimi Dafsari, Simon A. Lowe…·Manolis Fanto

This study links proteotoxic stress from defective autophagy to epileptogenesis in Drosophila and Vici Syndrome patients, suggesting autophagy-stimulating diets as a potential treatment.

1 citation

Drosophilahuman

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Genetic & Genomic MedicinemedRxivPreprintApr 19, 2022

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Naim Panjwani, Amy Shakeshaft, Delnaz Roshandel…·Lisa J. Strug

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

DOI 10.1101/2022.04.19.22273994

humanGWAS summary statistics

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