Anwar MM, Meseguer S, García-Rodríguez N, Krupinska E, Sele C, Rodríguez-Jiménez A, Verma S, Sagadevan S, Ramon J, Martí R, Occhipinti A, Angione C, Ordóñez-Morán P, Knecht W, Huertas P, Juanes MA.
NK-A 17E-233I: a novel competitive inhibitor of human dihydroorotate dehydrogenase (DHODH) for cancer therapy.
J Exp Clin Cancer Res. 2025 Oct 17;44(1):292.
DOI: 10.1186/s13046-025-03538-w
IF: 12.8
RESEARCH GROUPS
Neuromuscular and Mitochondrial Pathology
9
Number of publications
33.33
%
% Q1
33.33
%
% D1
66.67
%
% Leadership
0.00
%
% Female Leadership
0.98
CROWN (2021-2025)
7.69
%
HCP10% (2021-2025)
55.56
%
% Open access
44.44
%
% International Collaboration
1
Highly cited papers / HCP 1% (2021-2025)
0
Publications in high-IF journals with high Altmetric scores
11
Number of Ongoing Projectes (total)
1
International ongoing projects
2
Number of New projects (total)
0
International new projects
0
Number of Active clinical Trials
0
Number of New Clinical Trials
0
Number of Theses
Tomàs Pinós was invited to write a review in the prestigious journal Nature Reviews Cardiology (IF 2024: 44.7) summarizing the pathomechanisms, as well as preclinical, clinical, and epidemiological evidence for cardiovascular involvement in glycogen storage diseases, and describing interventions that can help preserve heart function in these disorders.
In November 2025, an important milestone culminating years of research was achieved: the approval by the FDA of thymidine and deoxycytidine for the treatment of TK2 deficiency, a fatal mitochondrial disease that drastically improves with this therapy. After more than one decade, the treatment becomes available for all patients diagnosed with this rare genetic disorder. In addition, we have initiated a coordinated project funded by the French AFM-Telethon, with two additional UK partners (from UCL and the University of Cambridge), devoted to extend the nucleoside-based therapy to other mitochondrial DNA maintenance disorders.
CORE/MISSIONS
- Aging
- Innovative & Advanced Therapies
- Rare Diseases
PROGRAMS
TEAM
Group Leader
Ramon Martí
Principal Investigator (PI)
Ramon Martí
Researchers
Tomàs Pinós Figueras, Yolanda Cámara Navarro, Maria Jesús Melià Grimal, Javier Ramón Pasías, Alejandro Hernández Belmonte, Andrea Férriz Gordillo, Pau Mollá Zaragozá, Juan Luis Restrepo Vera, Izaskun Izagirre Urizar, Vicent Muñoz Vaño, Fatemeh Kamalinejad
SELECTED PUBLICATIONS
Brevini T, Swift L, Reynolds H, Ong J, Stopforth RJ, Malam Y, Spiers HVM, Jovanovic E, Scaravaglio M, Vakeeswarasarma V, Heslop J, Emmett E, Andreatta B, Athanasiadis E, Cacciottolo TM, Fuchs CD, Trauner M, Hosgood SA, See TC, Pantelis P, Foukaneli D, Gelson WTH, Gibbs P, Allinson K, Pettigrew GJ, Duckworth A, Paterson AL, Gorgoulis VG, Thompson RJ, Kaser A, Kosmoliaptsis V, Chinnery PF, Marti R, van den Ameele J, Webb GJ, Watson CJE, Butler AJ, Sampaziotis F
Successful AAV8 gene therapy on hepatic ex situ machine perfusion for mitochondrial neurogastrointestinal encephalomyopathy
J Hepatol. 2025 Nov;83(5):1218-1225
DOI: 10.1016/j.jhep.2025.07.022
IF: 33.0
Pinós T, Cubbon RM, Santalla A, Fiuza-Luces C, Santos-Lozano A, Martín MA, Arenas J, Nielsen J, Ørtenblad N, Lucia A.
Cardiovascular involvement in glycogen storage diseases
Nat Rev Cardiol. 2026 Jan;23(1):39-59. Epub 2025 Jun 5.
DOI: 10.1038/s41569-025-01171-w
IF: 44.7
Santos-Lozano A, Plaza-Florido A, Carrera-Bastos P, Pérez-Prieto I, Hernández-Belmonte A, Kamalinejad F, Gálvez BG, López JA, Lumbreras J, Rincón-Castanedo C, Martín-Ruiz A, Fleck SJ, López-Soto A, Yanguas-Casás N, Pinós T, Lucia A, Fiuza-Luces C
Tumor Signatures of Physical Fitness: Insights from a Preclinical Model
Med Sci Sports Exerc. 2026 Jan 1;58(1):35-46. Epub 2025 Aug 25.
DOI: 10.1249/MSS.0000000000003836
IF: 3.9
Plaza-Florido A, Santos-Lozano A, López-Ortiz S, Gálvez BG, Arenas J, Martín MA, Valenzuela PL, Pinós T, Lucia A, Fiuza-Luces C
Aerobic capacity and muscle proteome: Insights from a mouse model
Exp Physiol. 2025 Feb;110(2):293-306
DOI: doi: 10.1113/EP092308
IF: 2.8
SELECTED PROJECTS
Deoxynucleosides as a potential therapy for mitochondrial DNA maintenance disorders.
Principal Investigator: Ramon Martí
Agency: AFM-Telethon - Plateforme Maladies Rares (Ref. AFM-28492)
Funding: 383,944 €
Period: January 2025 – December 2026
New in vivo and in vitro models to study therapies in mitochondrial DNA maintenance disorders.
Principal Investigator: Ramon Martí
Agency: Instituto de Salud Carlos III (Ref. PI24/00838)
Funding: 208,750 €
Period: January 2025 – December 2027
Nueva aproximación a la enfermedad de McArdle: Un enfoque integrador desde los modelos preclínicos hasta la calidad de vida de los pacientes.
Principal Investigator: Tomàs Pinós
Agency: Instituto de Salud Carlos III (Ref. PI22/00201)
Funding: 93,170 €
Period: January 2023 – December 2025
Identification of factors regulating mitochondrial respiratory complex I function and stability: exploring novel opportunities for therapeutic intervention (TARGETCOMPLEX-I)
Principal Investigator: Yolanda Cámara
Agency: Ministerio de Ciencia, Innovación y Universidades (MICIU); «Proyectos Generación de Conocimiento 2023» (Ref. PID2023-147668OB-I00)
Funding: 275,000 €
Period: September 2024 - August 2027
Preclinical efficacy studies for the use of deoxyribonucleosides as a treatment for mitochondrial DNA depletion/multiple deletions syndromes (MDDS). Extension to unexplored genetic causes.
Principal Investigator: Ramon Martí
Agency: Instituto de Salud Carlos III (Ref. PI21/00554)
Funding: 153,670 €
Period: January 2022 – December 2025 (extended)
PATENTS
Deoxynucleoside substrate enhancement therapy for thymidine kinase 2 (TK2) deficiency
Priority Number: US15/736,092
Priority Date: 17/06/2015
Applicants: 20% VHIR; 80% Columbia University
Treatment of Mitochondrial Diseases
Priority Number: EP16728892
Priority Date: 5/6/2015
Applicants: 70% VHIR; 30% CIBER
DISSEMINATION ACTIVITIES
Day of women and girls in Science
Place: VHIR
Date: 11/02/2025
Brief: Visit of primary school students to see what we do in the lab
EURORDIS-Rare Diseases Europe
Place: VHIR
Date: 27/02/2025
Brief: Visit of representatives of various European rare disease patient associations and students from EURORDIS Open Academy Training, Medicines Research & Development and Scientific Innovation & Translational Research
PILDORAS DE BIOTECH. Ysios capital & Pharma New Talent
Place: Virtual
Date: 18/11/2025
Brief: Podcast in spotify: FDA-Approved! Un nuevo tratamiento nacido en Vall d’Hebron
TMEX (Translational Medicine Explained) course (EATRIS)
Place: VHIR
Date: 13/11/2025
Brief: Visit of students of TMEX (Translational Medicine Explained) course
MBG Turkiye: From local to global (Youtube streaming; Season 1 episode 2)
Place: Youtube
Date: 15/4/2025
Brief: Talk given by Tomàs Pinós to be followed in streamer
