Author

Carmelo Milioto

UK Dementia Research InstituteORCID 0000-0002-3844-0728Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Neuroscience· 4

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 3 Approach:experimental assay· 3 Assay:bulk RNA-seq· 2 Research Focus:cell type annotation· 2 Organism:human· 2 Organism:mouse· 2 Assay:proteomics· 2 Organism:Drosophila· 1

Frequent Co-Authors

Adrian M. IsaacsiD· 4 shared Anny DevoyiD· 3 shared Elizabeth FisheriD· 3 shared Idoia GlariaiD· 3 shared Pietro FrattaiD· 3 shared Agnieszka M UleiD· 2 shared Benjamin DaviesiD· 2 shared Daniel Biggs· 2 shared

Activity by Year

2019-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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4 shared papersNeuroscience

Adrian M. IsaacsORCID

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4 papers

Recent·Most cited

C9orf72 polyGA knock-in mice exhibit mild motor and proteomic changes consistent with ALS/FTD

Carmelo Milioto, Mireia Carcolé, Matteo Zanovello, Mhoriam Ahmed, Raja Sekhar Nirujogi, Daniel Biggs, Eszter Katona, Idoia Glaria, Almudena Santos, Anny Devoy, Pietro Fratta, Dario R. Alessi, Benjamin Davies, Linda Greensmith, Elizabeth Fisher, Adrian M. Isaacs

This study creates (GA)400 knock-in mice to model C9orf72 polyGA expression, finding mild motor dysfunction and proteomic changes in the spinal cord.

bioRxiv · May 30, 2025 · PreprintNeuroscience

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia N. Attrebi, Mhoriam Ahmed, Sam Harris, Byung Il Lee, Mengke Yang, Raja Sekhar Nirujogi, Daniel Biggs, Sally E. Salomonsson, Matteo Zanovello, Paula De Oliveira, Eszter Katona, , Adrian M. Isaacs

The paper generates C9orf72 DPR knock-in mice and identifies an extracellular matrix signature in C9ALS/FTD that is conserved across species and protected by TGF-β1 and COL6A1.

bioRxiv · Jul 17, 2023 · PreprintNeuroscience

Genome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides

Rubika Balendra, Igor Ruiz de los Mozos, Idoia Glaria, Carmelo Milioto, Hana M. Odeh, Katherine M Wilson, Agnieszka M Ule, Martina Hallegger, Laura Masino, Stephen R. Martin, Rickie Patani, James Shorter, Jernej Ule, Adrian M. Isaacs

The paper identifies genome-wide RNA binding sites of poly(PR) dipeptides and shows preferential binding to GAAGA-containing RNAs, suggesting a role in neurodegeneration.

bioRxiv · Oct 10, 2022 · PreprintNeuroscience

FUS ALS-causative mutations impact FUS autoregulation and the processing of RNA-binding proteins through intron retention

Jack Humphrey, Nicol Birsa, Carmelo Milioto, David Robaldo, Andrea B Eberle, Rahel Kräuchi, Matthew P. Bentham, Agnieszka M Ule, Seth Jarvis, Cristian Bodo, Maria Giovanna Garone, Anny Devoy, Alessandro Rosa, Irene Bozzoni, Elizabeth Fisher, , Pietro Fratta

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

bioRxiv · Jun 18, 2019 · PreprintNeuroscience