Author

Valentina Turchetti

UCL Queen Square Institute of Neurology

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 4 Immunology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 5 Organism:human· 5 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Organism:zebrafish· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1

Frequent Co-Authors

Henry HouldeniD· 4 shared Reza MaroofianiD· 4 shared Stéphanie EfthymiouiD· 4 shared Abolfazl RadiD· 2 shared Annarita ScardamagliaiD· 2 shared Barbara VonaiD· 2 shared Erum AfzaliD· 2 shared Giovanni ZifarelliiD· 2 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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4 shared papersGenetic & Genomic Medicine

Henry HouldenORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration

Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober, Christian Latza, Mine Isaoglu, Anwar Abuelrub, Abolfazl Rad, Zahra Firoozfar, Valentina Turchetti, Renee Q Lin, Reza Maroofian, Sarah Wiethoff, Erum Afzal, Faisal Zafar, , Henry Houlden

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

medRxiv · Sep 1, 2026 · PreprintGenetic & Genomic Medicine

TDP-43 pathology induces CD8+ T cell activation through cryptic epitope recognition

Shahab Chizari, Matteo Zanovello, Steven Lingyang Kong, Vidur J. Saigal, Anna‐Leigh Brown, Valentina Turchetti, Bingxian Chen, Connor C. Devine, Luca Zampedri, Iwona Skorupinska, Giacomo Maria Minicuci, Francesca Paron, Paola Tonin, Giulia Marchetto, Ziyi Li, , Ning Jenny Jiang

This study identifies cryptic epitopes from de novo proteins caused by TDP-43 pathology as targets of CD8+ T cell activation in ALS and IBM.

bioRxiv · Jun 22, 2025 · PreprintImmunology

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang, Rauan B. Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang, Cassidy Petree, , Dragony Fu

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The American Journal of Human Genetics · Apr 16, 2025Peer-reviewedGenetic & Genomic Medicine

Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Lin, J. Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Curró, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, , Henry Houlden

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

medRxiv · May 10, 2024 · PreprintGenetic & Genomic Medicine

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

Carolina Gracia-Diaz, Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang, Natàlia Padilla, Raquel Fueyo, Garrett Otrimski, Dong Li, Sarah E. Sheppard, Paul R. Mark, Margaret Horton Harr, Hakon H. Hakonarson, Lance H. Rodan, , Naiara Akizu

medRxiv · Aug 9, 2022 · PreprintGenetic & Genomic Medicine