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Emanuele Buratti

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Contracted Professor- Transcriptomic Course

Università degli Studi di Torino

Italy

Research Interests

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Recent Grants

Grant: Close

SISMIC-TDP-43: Structure based Identification of Small Molecules Interacting with and Counteracting TDP-43 aggregation

Open Date: 2024-10-01

Close Date: 2026-10-01

Grant: Open

Investigating the role of TDP-43 mislocalization, structure, and post-translational modifications in the neuropathologically heterogeneous TDP-43 proteinopathies (R01NS137469 - NINDS)

Open Date: 2024-10-01

Close Date: 2029-10-01

Grant: Open

RGNEF Study Group

Open Date: 2024-10-01

Close Date: 2029-10-01

Grant: Close

Impact of TDP-43 and FUS phosphorylation status in disease

Open Date: 2023-10-01

Close Date: 2025-10-01

Grant: Close

Developing a Comprehensive Blood Test for Sporadic and Familial ALS

Open Date: 2023-09-01

Close Date: 2025-09-01

Articles (38)

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Collaborators (59)

Christopher Butler

Clinical Reader in Complex and Chronic Diseases

Imperial College London

UNITED KINGDOM

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David Thomas

Associate Professor

UCL Institute of Neurology, University College London

UNITED KINGDOM

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Arabella Bouzigues

University College London

UNITED KINGDOM

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Enrico Premi

Clinical Neurologist (permanent contract)

Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

ITALY

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Elena Bueno Martínez

Profesora Ayudante Doctora

Universidad de Valladolid

SPAIN

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Daniele Altomare

Scuola universitaria professionale della Svizzera italiana

SWITZERLAND

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Lara Sanoguera-Miralles

Assistant Professor

Universidad de Valladolid

SPAIN

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Henrik Zetterberg

Professor

University of Gothenburg

SWEDEN

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Lize Jiskoot

Assistant professor

Erasmus University Rotterdam

NETHERLANDS

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Harro Seelaar

Neurologist

Erasmus MC

NETHERLANDS

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Jonathan Rohrer

University College London

UNITED KINGDOM

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Koen Poesen

Department chair

KU Leuven

BELGIUM

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Miguel Mompeán

Instituto de Química Física Rocasolano

SPAIN

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Ilse Dewachter

Full Professor

Hasselt University

BELGIUM

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Jennifer Phillips-Cremins

BJC Investigator/James McDonnell Professor

Washington University in St. Louis

UNITED STATES

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Martina Bocchetta

Associate Professor (Teaching) in Neuroscience

Brunel University London

UNITED KINGDOM

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Saira Saeed Mirza

Research Associate

Sunnybrook Research Institute

CANADA

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Caroline Graff

Professor,MD PhD

Karolinska Institutet

SWEDEN

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Robert Bruce Russell

Professor

Ruprecht Karls Universität Heidelberg

GERMANY

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Robert Bruce Russell

Professor of Protein Evolution

Heidelberg University

GERMANY

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Anand Goswami

Assistant Professor

Columbia University

UNITED STATES

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Daniele Peroni

Staff Scientist in Mass Spec Facility

University of Trento

ITALY

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Serena Carra

Associate Professor of Molecular Biology

University of Modena and Reggio Emilia

ITALY

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Henry Tregidgo

University College London

UNITED KINGDOM

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Markus Otto

GERMANY

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Eladio Andrés Velasco-Sampedro

SPAIN

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Richard A.I. Bethlehem

Assistant Professor

University of Cambridge

UNITED KINGDOM

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Avindra Nath

Clinical Director

National Institutes of Health

UNITED STATES

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Andrew Paterson

Professor, Epidemiology and Biostatistics

University of Toronto

CANADA

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Dimitris Xirodimas

Group Leader-Director of Research

CNRS Délégation Languedoc-Roussillon

FRANCE

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Matthis Synofzik

Professor

Hertie Institute for clinical brain research

GERMANY

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catia mio

University of Udine

ITALY

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Emily Feneberg

Specialist Neurologist

Klinikum rechts der Isar der Technischen Universität München

GERMANY

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sandro sorbi

Full Professor of Neurology

University of Florence

ITALY

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Maria Zlobina

senior researcher

Masaryk University

CZECH REPUBLIC

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David Whiteside

University of Cambridge

UNITED KINGDOM

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Priyanka Baloni

Assistant Professor

Purdue University

UNITED STATES

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Simon Alberti

Professor

Technische Universität Dresden

GERMANY

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Frederico Simões do Couto

Associate Professor of Psychiatry and Psychopharmacology

Universidade Católica Portuguesa

PORTUGAL

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Emil Gustavsson

Assistant Research Professor

University of Cambridge

UNITED KINGDOM

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Johannes Levin

Professor for Clinical Neurodegeneration

Ludwig-Maximilians-Universität München

GERMANY

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Maura Malpetti

Research Professor

University of Cambridge

UNITED KINGDOM

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Fabiola De Marchi

ITALY

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Sarah Kargbo-Hill

Assistant Professor

University of Michigan

UNITED STATES

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Ivana Munitic

Full Professor

University in Rijeka

CROATIA

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ROBERTO SIMEONE

Contract Professor in Clinical Pathology (Clinico di Scienze mediche, chirurgiche e della salute)

Università degli Studi di Torino

ITALY

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Robert Jr Laforce

Professeur agrégé de clinique

Laval University

CANADA

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Jasna Kriz

Full Professor

Université Laval Faculté de médecine

CANADA

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Johanna Krüger

Clinical lecturer, Adjunct professor, Research group leader

University of Oulu

FINLAND

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Timothy Rittman

Assistant Research Professor

University of Cambridge

UNITED KINGDOM

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Daniela Galimberti

Associate Professor

Università degli Studi di Torino

ITALY

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Maurizio Romano

Associate Professor

University of Trieste

ITALY

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Tyler Howell-Bray

Lecturer in Biology

University of Hull

UNITED KINGDOM

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Flavio Faletra

Docenti di ruolo di IIa fascia

University of Udine

ITALY

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Alexander Murley

Clinical Lecturer in Neurology

University of Cambridge

UNITED KINGDOM

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Barbara Borroni

Docenti di ruolo di IIa fascia

University of Brescia

ITALY

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Valerio Orlando

Professor, Bioscience

King Abdullah University of Science and Technology

SAUDI ARABIA

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Jernej Ule

Director of Dementia Research Institute at King's

King’s College London

UNITED KINGDOM

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João Durães

Assistant Professor

University of Coimbra

PORTUGAL

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Emanuele Buratti

Research Interests

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Recent Grants

Articles (38)

Composite grey matter fingerprints for genetic frontotemporal dementia

A novel spliceosomopathy caused by de novo SF3B3 variants

Functional Activity of TDP-43: A Direct Biomarker for ALS

Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia

MYC-driven gliosis impairs neuron-glia communication in amyotrophic lateral sclerosis

TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain

SUMO2/3 conjugation of TDP-43 protects against aggregation

Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia

Executive Function Deficits in Genetic Frontotemporal Dementia

Disease-modifying effects of TMEM106B in genetic frontotemporal dementia

Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study

hnRNP A1 induces aberrant CFTR exon 9 splicing via a newly discovered ESS element

Optineurin Shapes Basal and LPS-Induced Transcriptomes in BV2 Microglia

TDP-43 Knockdown In Neuronal Vs Astrocytic Cell Lines Reveals Similarities And Differences In the Biological Functions Between These Two Cellular Contexts

Development of [&lt;sup&gt;18&lt;/sup&gt;F]ACI-19626 as a first-in-class brain PET tracer for imaging TDP-43 pathology.

Genomic modifiers of neurological resilience in a Niemann-Pick C family.

Progranulin deficiency in the brain: the interplay between neuronal and non-neuronal cells

Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.

Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study

Location and function of TDP-43 in platelets, alterations in neurodegenerative diseases and arising considerations for current plasma biobank protocols.

Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

tRNA <sup>Arg</sup> binds <i>in vitro</i> TDP-43 RNA recognition motifs and ligand of Ate1 protein LIAT1.

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort

Assessing the Impact of Novel BRCA1 Exon 11 Variants on Pre-mRNA Splicing

Changes in the expression of COI1, TIR1, and ERF1 genes and respective MiRNAs in Fusarium basal Rot-Stressed onion

Mitigation of TDP-43 toxic phenotype by an RGNEF fragment in amyotrophic lateral sclerosis models.

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

NfL reliability across laboratories, stage-dependent diagnostic performance and matrix comparability in genetic FTD: a large GENFI study.

TDP-43 Epigenetic Facets and Their Neurodegenerative Implications

Cross-seeding by prion protein inactivates TDP-43.

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine.

Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder

Early neurotransmitters changes in prodromal frontotemporal dementia: A GENFI study.

TDP-43 Proteinopathy Specific Biomarker Development

Reviewing the Potential Links between Viral Infections and TDP-43 Proteinopathies

Loss of brainstem white matter predicts onset and motor neuron symptoms in C9orf72 expansion carriers: a GENFI study

NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.

Unraveling the toxic effects mediated by the neurodegenerative disease–associated S375G mutation of TDP-43 and its S375E phosphomimetic variant

Collaborators (59)

Christopher Butler

David Thomas

Arabella Bouzigues

Enrico Premi

Elena Bueno Martínez

Daniele Altomare

Lara Sanoguera-Miralles

Henrik Zetterberg

Lize Jiskoot

Harro Seelaar

Jonathan Rohrer

Koen Poesen

Miguel Mompeán

Ilse Dewachter

Jennifer Phillips-Cremins

Martina Bocchetta

Saira Saeed Mirza

Caroline Graff

Robert Bruce Russell

Robert Bruce Russell

Anand Goswami

Daniele Peroni

Serena Carra

Henry Tregidgo

Markus Otto

Eladio Andrés Velasco-Sampedro

Richard A.I. Bethlehem

Avindra Nath

Andrew Paterson

Dimitris Xirodimas

Matthis Synofzik

catia mio

Emily Feneberg

sandro sorbi

Maria Zlobina

Development of [<sup>18</sup>F]ACI-19626 as a first-in-class brain PET tracer for imaging TDP-43 pathology.