Author

Marı́a José Martı́

Biomedical Research Networking Center on Neurodegenerative DiseasesORCID 0000-0002-3874-967XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 2 Cell Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 4 Research Focus:GWAS / association mapping· 3 Research Focus:differential expression· 2 Assay:GWAS summary statistics· 2 Assay:proteomics· 2 Research Focus:cell type annotation· 1 Approach:experimental assay· 1

Frequent Co-Authors

Esteban MuñoziD· 3 shared Francesc ValldeoriolaiD· 3 shared Mario EzquerraiD· 3 shared Ruben Fernandez-SantiagoiD· 3 shared Yaroslau ComptaiD· 3 shared Alberto RábanoiD· 2 shared Alícia GarridoiD· 2 shared Ana CámaraiD· 2 shared

Activity by Year

2019-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 40 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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3 shared papersNeuroscience

Esteban MuñozORCID

Mutual co-authors in cluster

Author profile →

5 papers

Recent·Most cited

Extracellular vesicle-mediated release of bis(monoacylglycerol)phosphate is regulated by LRRK2 and Glucocerebrosidase activity

Elsa Meneses‐Salas, Moisés Castellá, Marianna Arnold, F. Hsieh, Ruben Fernandez-Santiago, Mario Ezquerra, Alícia Garrido, Marı́a José Martı́, Carlos Enrich, Suzanne R. Pfeffer, Kalpana Merchant, Albert Lu

This study shows that LRRK2 and GCase regulate BMP release via EVs, with mutant LRRK2 increasing EV-associated BMP and GCase modulating this effect.

eLife · Apr 2, 2026Peer-reviewedCell Biology

Phospho-signalling deregulation of the mTOR pathway in fibroblasts from LRRK2 Parkinson s patients

Rodolfo Alejandro, Joaquín Fernández‐Irigoyen, Pares Guillem, Adriana Cortés, Enrique Santamaría, Manel Fernández, Esteban Muñoz, Almudena Sánchez‐Gómez, Cèlia Painous, Ana Cámara, Francesc Valldeoriola, Yaroslau Compta, Eduardo Tolosa, Alícia Garrido, Marı́a José Martı́, , Mario Ezquerra

This study identifies mTOR pathway deregulation in fibroblasts from LRRK2 Parkinson's patients through proteomic and phospho-proteomic analysis.

bioRxiv · Dec 9, 2025 · PreprintNeuroscience

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

Pablo García‐González, Héctor Rodrigo Lara, Yaroslau Compta, Manuel Fernandez, Sven J. van der Lee, Itziar de Rojas, Laura Saiz-Aúz, Cèlia Painous, Ana Camara, Esteban Muñoz, Marı́a José Martı́, Francesc Valldeoriola, Raquel Puerta, Ignacio Illán‐Gala, Javier Pagonabarraga, , Agustı́n Ruiz

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

medRxiv · Jun 21, 2024 · PreprintGenetic & Genomic Medicine

Genome-wide association study of autopsy-confirmed Multiple System Atrophy identifies common variants near ZIC1 and ZIC4

Franziska Hopfner, Anja K. Tietz, Viktoria Ruf, Owen A. Ross, Shunsuke Koga, Dennis W. Dickson, Adriano Aguzzi, Johannes Attems, Thomas Beach, Allison Beller, William P. Cheshire, Vivianna M. Van Deerlin, Paula Desplats, Günther Deuschl, Charles J. Duyckaerts, , Günter U. Höglinger

Movement Disorders · Aug 23, 2022Peer-reviewedGenetic & Genomic Medicine

The genetic architecture of Parkinson disease in Spain: characterizing population-specific risk, differential haplotype structures, and providing etiologic insight

Sara Bandrés‐Ciga, Sarah Ahmed, Marya S. Sabir, Cornelis Blauwendraat, Astrid Daniela Adarmes-Gómez, Inmaculada Bernal‐Bernal, Marta Bonilla‐Toribio, Dolores Buiza‐Rueda, Fátima Carrillo, Mario Carrión‐Claro, Pilar Gómez‐Garre, Silvia Jesús, Miguel Ángel Labrador‐Espinosa, Daniel Macías, Carlota Méndez‐del‐Barrio, , Andrew Singleton

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

Movement Disorders · Oct 29, 2019Peer-reviewedNeuroscience