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Neuromuscular and Mitochondrial Pathology

The group focuses on the study of pathogenic mechanisms of the mitochondrial diseases, either caused by mutations in nuclear DNA or mitochondrial DNA, associated to diverse neuromuscular syndromes. Specifically, our active research lines are devoted to the study of diseases caused by dysfunctional mitochondrial DNA replication and maintenance, and mitochondrial protein synthesis. We put special efforts on finding and testing potential therapy approaches through preclinical investigation using in vitro and in vivo models of these diseases. We are also working on developing new approaches for genetic diagnosis for these disorders, as well as on testing novel genetic variants for potential pathogenicity trough functional studies.

In addition, we are also working on the study of other metabolic neuromuscular disorders, such as the glycogenosis type V (McArdle Disease) and other muscle glycogenoses. This research line includes the coordination of the European patient registry EUROMAC. 

Team

Izaskun Izagirre Urizar

Izaskun Izagirre Urizar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Mónica Azucena Villarreal Salazar

Mónica Azucena Villarreal Salazar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Muñoz Vaño, Vicent

Muñoz Vaño, Vicent

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Pau Mollá Zaragozá

Pau Mollá Zaragozá

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Ramon Martí Seves

Ramon Martí Seves

Head of group
Neuromuscular and Mitochondrial Pathology
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Andrea Férriz Gordillo

Andrea Férriz Gordillo

Research technician
Neuromuscular and Mitochondrial Pathology
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Izaskun Izagirre Urizar

Izaskun Izagirre Urizar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Mónica Azucena Villarreal Salazar

Mónica Azucena Villarreal Salazar

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Muñoz Vaño, Vicent

Muñoz Vaño, Vicent

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Pau Mollá Zaragozá

Pau Mollá Zaragozá

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Ramon Martí Seves

Ramon Martí Seves

Head of group
Neuromuscular and Mitochondrial Pathology
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Andrea Férriz Gordillo

Andrea Férriz Gordillo

Research technician
Neuromuscular and Mitochondrial Pathology
Read more

Research lines

Characterization of genotype-phenotype association in McArdle’s disease

IP: -

Genetic and biochemical studies of mtDNA depletion and deletion syndromes; implications on the control of nucleotide pools

IP: -

Study of pathogenic mechanisms of mutations in mitochondrial DNA ( mtDNA) structural genes

IP: -

Study of possible therapy approaches for mtDNA depletion and deletion syndromes

IP: -

Projects

ROL DE LA APELINA EN LA ENFERMEDAD RENAL DIABÉTICA: DEL RATÓN AL HUMANO

IP: Maria Jose Soler Romeo
Collaborators: Marina Lopez Martinez, Jordi Vilardell Vilà, Irene Martinez Diaz, Sheila Bermejo Garcia, Vicent Muñoz Vaño, Carmen Llorens Cebriá, M Antonieta Azancot Rivero, Enzamaría Fidilio Meli, Juan Carlos León Román
Funding agency: Instituto de Salud Carlos III
Funding: 190000
Reference: PI24/01510
Duration: 01/01/2025 - 31/12/2027

Models d'estudi de malalties degudes a manteniment defectuós del DNA mitocondrial

IP: Ramon Martí Seves
Collaborators: Mª Jesus Melia Grimal, Pau Mollá Zaragozá, Models d'estudi de malalties degudes a manteniment defectuós del DNA mitocondrial, Javier Francisco Ramón Pasías, Juan Luis Restrepo Vera
Funding agency: Instituto de Salud Carlos III
Funding: 208750
Reference: PI24/00838
Duration: 01/01/2025 - 31/12/2027

NUCLEOSIDES4MITO: Deoxynucleosides as a potential therapy for mitochondrial DNA maintenance disorders

IP: Ramon Martí Seves
Collaborators: -
Funding agency: Association Française contre les Myopathies (AFM)
Funding: 171100
Reference: AFM-TÉLÉTHON/MITOCHONDRIAL-MEDICINECALL/2023/MARTÍ
Duration: 01/01/2025 - 31/12/2026

Células progenitoras residentes derivadas de músculo esquelético: modelo celular in vitro preferente en el proceso diagnóstico y de investigación traslacional de las enfermedades mitocondriales primarias

IP: Ramon Martí Seves
Collaborators: Juan Luis Restrepo Vera
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 74452.89
Reference: 2024 FI-1 00388
Duration: 01/07/2024 - 30/06/2025

Publications

Usefulness of serum neurofilament light chain in chronic inflammatory demyelinating polyradiculoneuropathy.

PMID: 39874744
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2025
Reference: J Neurol Sci. 2025 Jan 18;470:123397. doi: 10.1016/j.jns.2025.123397.
Impact factor:
Publication type: Paper in international publication
Authors: Aleman, J; Comabella, M; Fissolo, N; Garcia-Carmona, C; Gratacos-Vinola, M; Juntas-Morales, R; Lainez, E; Llaurado, A; Raguer, N; Restrepo-Vera, J L et al.
DOI: 10.1016/j.jns.2025.123397

Acute ketone supplementation in the absence of muscle glycogen utilization: Insights from McArdle disease.

PMID: 38320460
Journal: CLINICAL NUTRITION
Year: 2024
Reference: Clin Nutr. 2024 Jan 26;43(3):692-700. doi: 10.1016/j.clnu.2024.01.026.
Impact factor:
Publication type: Paper in international publication
Authors: Alejo, Lidia B; Barranco-Gil, David; Bustos, Asuncion; Castellote-Belles, Laura; Ferrer-Costa, Roser; Lucia, Alejandro; Moran, Maria; Ozcoidi, Laureano M; Pinos, Tomas; Santalla, Alfredo et al.
DOI: 10.1016/j.clnu.2024.01.026

Usefulness of somatosensory evoked potentials for monitoring the clinical course of patients with chronic inflammatory demyelinating polyradiculoneuropathy.

PMID: 39132869
Journal: MUSCLE & NERVE
Year: 2024
Reference: Muscle Nerve. 2024 Aug 12. doi: 10.1002/mus.28234.
Impact factor:
Publication type: Paper in international publication
Authors: Aleman, J; Gratacos-Vinola, M; Juntas-Morales, R; Lainez, E; Llaurado, A; Lopez-Diego, V; Raguer, N; Restrepo-Vera, J L; Salvado, M; Sanchez-Tejerina, D et al.
DOI: 10.1002/mus.28234

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

PMID: 39230499
Journal: ANNALS OF NEUROLOGY
Year: 2024
Reference: Ann Neurol. 2024 Sep 4. doi: 10.1002/ana.27071.
Impact factor:
Publication type: Paper in international publication
Authors: Barriocanal-Casado, Eliana; Comi, Giacomo Pietro; Dorschner, Michael O; Garrabou, Gloria; Gort, Laura; Gu, Yue; Hidalgo-Gutierrez, Agustin; Hirano, Michio; Horwitz, Marshall S; Koganti, Lahari et al.
DOI: 10.1002/ana.27071

Can exercise kill tumors?

PMID: 39447748
Journal:
Year: 2024
Reference: J Sport Health Sci. 2024 Oct 22:101001. doi: 10.1016/j.jshs.2024.101001.
Impact factor:
Publication type: Paper in international publication
Authors: Fiuza-Luces, Carmen; Lucia, Alejandro; Pinos, Tomas; Plaza-Florido, Abel; Santos-Lozano, Alejandro; Yanguas-Casas, Natalia et al.
DOI: 10.1016/j.jshs.2024.101001

Chronic progressive external ophthalmoplegia plus syndrome due to Homozygous Missense Variant in TOP3A gene.

PMID: 36544354
Journal: CLINICAL GENETICS
Year: 2023
Reference: Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Lopez-Diego, Veronica; Martinez-Saez, Elena; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/cge.14287

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

PMID: 36446894
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Balmana, Judith; Campos, Berta; Campos, Berta; Carrasco, Estela; Codina-Sola, Marta; Costa-Roger, Mar; Cueto-Gonzalez, Anna Maria; Cusco, Ivon; Diez, Orland et al.
DOI: 10.1038/s41431-022-01240-5

Muscle glycogen unavailability and fat oxidation rate during exercise: Insights from McArdle disease.

PMID: 36370371
Journal: JOURNAL OF PHYSIOLOGY-LONDON
Year: 2023
Reference: J Physiol. 2023 Feb;601(3):551-566. doi: 10.1113/JP283743. Epub 2022 Nov 29.
Impact factor:
Publication type: Paper in international publication
Authors: Ara, Ignacio; Lucia, Alejandro; Pinos, Tomas; Real-Martinez, Alberto; Rodriguez-Gomez, Irene; Rodriguez-Lopez, Carlos; Santalla, Alfredo; Valenzuela, Pedro L; Villarreal-Salazar, Monica et al.
DOI: 10.1113/JP283743

Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.

PMID: 36631979
Journal: MUSCLE & NERVE
Year: 2023
Reference: Muscle Nerve. 2023 Jun;67(6):E22-E24. doi: 10.1002/mus.27788. Epub 2023 Mar 27.
Impact factor:
Publication type: Letter whit IF
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Gratacos-Vinola, Margarida; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.1002/mus.27788

Low aerobic capacity in McArdle disease: a role for mitochondrial network impairment?

PMID: 36455789
Journal: Molecular Metabolism
Year: 2022
Reference: Mol Metab. 2022 Dec;66:101648. doi: 10.1016/j.molmet.2022.101648. Epub 2022 Nov 28.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A L; Arenas, J; Fiuza-Luces, C; Krag, T O; Lucia, A; Martin, M A; Nogales-Gadea, G; Pinos, T; Real-Martinez, A; Rodriguez-Aguilera, J C et al.
DOI: 10.1016/j.molmet.2022.101648

Long-Term Exercise Intervention in Patients with McArdle Disease: Clinical and Aerobic Fitness Benefits.

PMID: 35320153
Journal: MEDICINE & SCIENCE IN SPORTS & EXERCISE
Year: 2022
Reference: Med Sci Sports Exerc. 2022 Aug 1;54(8):1231-1241. doi: 10.1249/MSS.0000000000002915. Epub 2022 Mar 22.
Impact factor:
Publication type: Paper in international publication
Authors: Ara, Ignacio; Arenas, Joaquin; Fiuza-Luces, Carmen; Lucia, Alejandro; Martin, Miguel A; Moran, Maria; Nogales-Gadea, Gisela; Pinos, Tomas; Rodriguez-Gomez, Irene; Rodriguez-Lopez, Carlos et al.
DOI: 10.1249/MSS.0000000000002915

A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.

PMID: 36202811
Journal: Nature Communications
Year: 2022
Reference: Nat Commun. 2022 Oct 6;13(1):5902. doi: 10.1038/s41467-022-33530-3.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Becker, Philipp; Brun-Heath, Isabelle; Canevazzi, Davide; Dabad, Marc; Frias-Lopez, Cristina; Garcia-Arumi, Elena; Gut, Ivo Glynne; Gut, Marta; Heath, Simon Charles et al.
DOI: 10.1038/s41467-022-33530-3

Pathological Features in Paediatric Patients with TK2 Deficiency.

PMID: 36232299
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Sep 20;23(19). pii: ijms231911002. doi: 10.3390/ijms231911002.
Impact factor:
Publication type: Paper in international publication
Authors: Artuch, Rafael; Badosa, Carmen; Camara, Yolanda; Carrera-Garcia, Laura; Codina, Anna; Emperador, Sonia; Exposito-Escudero, Jesica; Ferrer, Isidre; Gutierrez-Mata, Alfonso; Jimenez-Mallebrera, Cecilia et al.
DOI: 10.3390/ijms231911002

Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.

PMID: 35698963
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Jul;57(7):501-503. doi: 10.1016/j.arbr.2020.11.017.
Impact factor:
Publication type: Letter whit IF
Authors: Álvarez, Antonio; Clofent, David; Culebras, Mario; de Gracia, Javier; Fernández-Alvarez, Paula; García Arumí, Elena; Gartner, Silvia; Loor, Karina; Loor, Karina; Polverino, Eva et al.
DOI: 10.1016/j.arbres.2020.11.002

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

PMID: 35052414
Journal: Genes
Year: 2021
Reference: Genes (Basel). 2021 Dec 28;13(1). pii: genes13010074. doi: 10.3390/genes13010074.
Impact factor:
Publication type: Review in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Brull, Astrid; Krag, Thomas O; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela; Pinos, Tomas; Santalla, Alfredo; Villarreal-Salazar, Monica et al.
DOI: 10.3390/genes13010074

The Second Wind in McArdle Patients: Fitness Matters.

PMID: 34721068
Journal: Frontiers in Physiology
Year: 2021
Reference: Front Physiol. 2021 Oct 15;12:744632. doi: 10.3389/fphys.2021.744632. eCollection 2021.
Impact factor:
Publication type: Paper in international publication
Authors: Fiuza-Luces, Carmen; Lucia, Alejandro; Moran, Maria; Nogales-Gadea, Gisela; Pinos, Tomas; Salazar-Martinez, Eduardo; Santalla, Alfredo; Santos-Lozano, Alejandro; Valenzuela, Pedro L et al.
DOI: 10.3389/fphys.2021.744632

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

PMID: 34600563
Journal: Orphanet Journal of Rare Diseases
Year: 2021
Reference: Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w.
Impact factor:
Publication type: Review in international publication
Authors: Dominguez-Gonzalez, Cristina; Hirano, Michio; Madruga-Garrido, Marcos; Marti, Itxaso; Marti, Ramon; Martin, Miguel A; Munell, Francina; Nascimento, Andres; Olive, Montse; Paradas, Carmen et al.
DOI: 10.1186/s13023-021-02030-w

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

PMID: 33420009
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3.
Impact factor:
Publication type: Paper in international publication
Authors: Cueto-Gonzalez, Anna M; Fernandez-Alvarez, Paula; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Tizzano, Eduardo F et al.
DOI: 10.1038/s41439-020-0105-3

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.

PMID: 33348688
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2020
Reference: Int J Mol Sci. 2020 Dec 17;21(24). pii: ijms21249621. doi: 10.3390/ijms21249621.
Impact factor:
Publication type: Review in international publication
Authors: Almodovar-Paya, Aitana; Andreu, Antoni L; Arenas, Joaquin; de Luna, Noemi; Krag, Thomas; Lucia, Alejandro; Martin, Miguel Angel; Nogales-Gadea, Gisela; Pinos, Tomas; Real-Martinez, Alberto et al.
DOI: 10.3390/ijms21249621

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

PMID: 33234167
Journal: Orphanet Journal of Rare Diseases
Year: 2020
Reference: Orphanet J Rare Dis. 2020 Nov 24;15(1):330. doi: 10.1186/s13023-020-01562-x.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Andreu, Antoni L; Baruch, Noemi; Bruno, Claudio; Castelli, Monica; Durmus, Hacer; Durmus, Hacer; Hadjgeorgiou, Georgios; Haller, Ronald; Kierdaszuk, Biruta et al.
DOI: 10.1186/s13023-020-01562-x

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.

PMID: 33232869
Journal: EBioMedicine
Year: 2020
Reference: EBioMedicine. 2020 Dec;62:103133. doi: 10.1016/j.ebiom.2020.103133. Epub 2020 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Cabrera-Perez, Raquel; Camara, Yolanda; Hirano, Michio; Lope-Piedrafita, Silvia; Marti, Ramon; Mingozzi, Federico; Molina-Berenguer, Miguel; Torres-Torronteras, Javier; Vila-Julia, Ferran et al.
DOI: 10.1016/j.ebiom.2020.103133

Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing.

PMID: 31687263
Journal: Journal of pediatric genetics
Year: 2019
Reference: J Pediatr Genet. 2019 Dec;8(4):231-234. doi: 10.1055/s-0039-1691812. Epub 2019 May 28.
Impact factor:
Publication type: Paper in international publication
Authors: Brieva, Luis; Carreno-Gago, Lidia; Garcia-Arumi, Elena; Lopez, Ricard; Montoya, Julio; Ruiz-Pesini, Eduardo; Traveset, Alicia; Vazquez-Justes, Daniel et al.
DOI: 10.1055/s-0039-1691812

Significant Improvement in Diagnosis of Hepatitis C Virus Infection by One Step Strategy in a Central Laboratory: An Optimal Tool for Hepatitis C Elimination?

PMID: 31694971
Journal: JOURNAL OF CLINICAL MICROBIOLOGY
Year: 2019
Reference: J Clin Microbiol. 2019 Dec 23;58(1). pii: JCM.01815-19. doi: 10.1128/JCM.01815-19. Print 2019 Dec 23.
Impact factor:
Publication type: Paper in international publication
Authors: Arias-Garcia, Andrea; Blanco-Grau, Albert; Buti-Ferret, Maria; Caballero-Garralda, Andrea; Casis-Saez, Ernesto; Castellote-Belles, Laura; Esteban-Mur, Rafael; Ferrer-Costa, Roser; Lopez-Martinez, Rosa; Montserrat-Lloan, Isabel et al.
DOI: 10.1128/JCM.01815-19

Age-related metabolic changes limit efficacy of deoxynucleoside-based therapy in thymidine kinase 2-deficient mice.

PMID: 31351931
Journal: EBioMedicine
Year: 2019
Reference: EBioMedicine. 2019 Aug;46:342-355. doi: 10.1016/j.ebiom.2019.07.042. Epub 2019 Jul 24.
Impact factor:
Publication type: Paper in international publication
Authors: Blazquez-Bermejo, Cora; Camara, Yolanda; Jimenez-Heis, Daniel; Karlsson, Anna; Marti, Ramon; Molina-Granada, David; Torres-Torronteras, Javier; Vila-Julia, Ferran; Zhou, Xiaoshan et al.
DOI: 10.1016/j.ebiom.2019.07.042

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.

PMID: 31258551
Journal: Frontiers in Genetics
Year: 2019
Reference: Front Genet. 2019 Jun 14;10:576. doi: 10.3389/fgene.2019.00576. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Blazquez-Bermejo, Cora; Camara, Yolanda; Carreno-Gago, Lidia; Diaz-Manera, Jordi; Gallardo, Eduard; Garcia-Arumi, Elena; Marti, Ramon; Torres-Torronteras, Javier et al.
DOI: 10.3389/fgene.2019.00576

Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress.

PMID: 30138712
Journal: FREE RADICAL BIOLOGY AND MEDICINE
Year: 2018
Reference: Free Radic Biol Med. 2018 Oct;126:235-248. doi: 10.1016/j.freeradbiomed.2018.08.020. Epub 2018 Aug 20.
Impact factor:
Publication type: Paper in international publication
Authors: Blazquez, Alberto; Cuezva, Jose M; Esparza-Molto, Pau B; Gallardo, Eduard; Garcia-Arumi, Elena; Gonzalez-Quintana, Adrian; Martin, Miguel A; Nunez-Salgado, Alfonso; Olive, Montserrat; Santacatterina, Fulvio et al.
DOI: 10.1016/j.freeradbiomed.2018.08.020

Missense mutations have unexpected consequences: The McArdle disease paradigm.

PMID: 30011114
Journal: HUMAN MUTATION
Year: 2018
Reference: Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Asensio-Pena, Sara; Ballester-Lopez, Alfonsina; Coll-Canti, Jaume; Francisco-Velilla, Rosario; Garcia-Consuegra, Ines; Gonzalez-Quintana, Adrian; Lucia, Alejandro; Martin, Miguel A et al.
DOI: 10.1002/humu.23591

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.

PMID: 29687034
Journal: Molecular Therapy-Methods & Clinical Development
Year: 2018
Reference: Mol Ther Methods Clin Dev. 2018 Jan 8;8:152-165. doi: 10.1016/j.omtm.2018.01.001. eCollection 2018 Mar 16.
Impact factor:
Publication type: Paper in international publication
Authors: Bernsen, Monique R; Biasco, Luca; Bogaerts, Elly; Bugiani, Marianna; Cabrera-Perez, Raquel; de Coo, Irenaeus F M; Goffart, Steffi; Haeck, Joost C; Huston, Marshall W; Jacobs, Edwin H et al.
DOI: 10.1016/j.omtm.2018.01.001

[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].

PMID: 29645070
Journal: REVISTA DE NEUROLOGIA
Year: 2018
Reference: Rev Neurol. 2018 Apr 16;66(8):268-270.
Impact factor:
Publication type: Paper in national publication
Authors: Alonso-Jimenez, A; Casquero, P; Diaz-Manera, J; Erdocia-Goni, A; Gallardo, E; Garcia-Arumi, E; Ramon-Carbajo, C et al.
DOI: 10.33588/rn.6608.2017503

Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome.

PMID: 27989882
Journal: MITOCHONDRION
Year: 2017
Reference: Mitochondrion. 2017 May;34:1-8. doi: 10.1016/j.mito.2016.10.007. Epub 2016 Oct 28.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Yolanda; Carreno-Gago, Lidia; Catalan, Marc; Garcia-Arumi, Elena; Garrabou, Gloria; Martorell, Lourdes; Montana, Elena; Mulet, David; Torrell, Helena; Valiente-Palleja, Alba et al.
DOI: 10.1016/j.mito.2016.10.007

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

PMID: 29143597
Journal: BMC GENOMICS
Year: 2017
Reference: BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Asensio, Sara; Ballester-Lopez, Alfonsina; Coll-Canti, Jaume; Consuegra, Ines Garcia; Diez-Bermejo, Jorge; Encinar, Alberto Blazquez; Gonzalez-Quintana, Adrian; Lucia, Alejandro et al.
DOI: 10.1186/s12864-017-4188-2

211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care 17-19th April 2015 Naarden, Netherlands.

PMID: 29079393
Journal: NEUROMUSCULAR DISORDERS
Year: 2017
Reference: Neuromuscul Disord. 2017 Dec;27(12):1143-1151. doi: 10.1016/j.nmd.2017.09.002. Epub 2017 Sep 14.
Impact factor:
Publication type: Review in international publication
Authors: Andreu, A; Andreu, Antoni L; Godfrey, R; Haller, R; Laforet, P; Lucia, A; Marti, R; Marti, Ramon; Martin, M; Martinuzzi, A et al.
DOI: 10.1016/j.nmd.2017.09.002

Resveratrol Increases Hepatic SHBG Expression through Human Constitutive Androstane Receptor: a new Contribution to the French Paradox.

PMID: 28947831
Journal: Scientific Reports
Year: 2017
Reference: Sci Rep. 2017 Sep 25;7(1):12284. doi: 10.1038/s41598-017-12509-x.
Impact factor:
Publication type: Paper in international publication
Authors: Brianso-Llort, Laura; Hammond, Geoffrey L; Saez-Lopez, Cristina; Selva, David M; Simo, Rafael; Torres-Torrenteras, Javier et al.
DOI: 10.1038/s41598-017-12509-x

Admission troponin-I predicts subsequent cardiac complications and mortality in acute stroke patients.

PMID: 31008281
Journal: European stroke journal
Year: 2016
Reference: Eur Stroke J. 2016 Sep;1(3):205-212. doi: 10.1177/2396987316654337. Epub 2016 Jun 21.
Impact factor:
Publication type: Paper in international publication
Authors: Blanco-Grau, Albert; Bustamante, Alejandro; Diaz-Fernandez, Belen; Garcia-Berrocoso, Teresa; Montaner, Joan; Pagola, Jorge; Penalba, Anna; Rubiera, Marta et al.
DOI: 10.1177/2396987316654337

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

PMID: 26913921
Journal: GENETICS IN MEDICINE
Year: 2016
Reference: Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219. Epub 2016 Feb 25.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Ballester-Lopez, Alfonsina; Blazquez, Alberto; Coll-Canti, Jaume; Garcia-Consuegra, Ines; Gonzalez-Quintana, Adrian; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela et al.
DOI: 10.1038/gim.2015.219

Inhibition of herpes simplex virus type 1 by the CDK6 inhibitor PD-0332991 (palbociclib) through the control of SAMHD1.

PMID: 26542306
Journal: JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
Year: 2016
Reference: J Antimicrob Chemother. 2016 Feb;71(2):387-94. doi: 10.1093/jac/dkv363. Epub 2015 Nov 4.
Impact factor:
Publication type: Paper in international publication
Authors: Angulo, Guillem; Badia, Roger; Ballana, Ester; Clotet, Bonaventura; Este, Jose A; Marti, Ramon; Pauls, Eduardo; Puig, Teresa; Pujantell, Maria; Ramirez, Cristina et al.
DOI: 10.1093/jac/dkv363

Genes and exercise intolerance: insights from McArdle disease.

PMID: 26465709
Journal: PHYSIOLOGICAL GENOMICS
Year: 2016
Reference: Physiol Genomics. 2016 Feb;48(2):93-100. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13.
Impact factor:
Publication type: Review in national publication
Authors: Arenas, Joaquin; Coll-Canti, Jaume; Godfrey, Richard; Lucia, Alejandro; Martin, Miguel Angel; Nogales-Gadea, Gisela; Pinos, Tomas; Pintos-Morell, Guillem; Santalla, Alfredo et al.
DOI: 10.1152/physiolgenomics.00076.2015

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

PMID: 26240973
Journal: GENET MED
Year: 2015
Reference: Genet Med. 2015 Aug;17(8):679-80. doi: 10.1038/gim.2015.76.
Impact factor:
Publication type: Letter or abstract
Authors: Andreu, Antoni L; Arenas, Joaquin; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela; Pinos, Tomas et al.
DOI: 10.1038/gim.2015.76

Comparison between conventional culture and NAATs for the microbiological diagnosis in gonococcal infection.

PMID: 26323884
Journal: DIAGN MICR INFEC DIS
Year: 2015
Reference: Diagn Microbiol Infect Dis. 2015 Dec;83(4):341-3. doi: 10.1016/j.diagmicrobio.2015.08.005. Epub 2015 Aug 8.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A; Barbera, M J; Caballero, E; Juve, R; Roig, G; Serra-Pladevall, J et al.
DOI: 10.1016/j.diagmicrobio.2015.08.005

Darunavir and Ritonavir Total and Unbound Plasmatic Concentrations in HIV-HCV-Coinfected Patients with Hepatic Cirrhosis Compared to Those in HIV-Monoinfected Patients.

PMID: 26282411
Journal: ANTIMICROB AGENTS CH
Year: 2015
Reference: Antimicrob Agents Chemother. 2015 Nov;59(11):6782-90. doi: 10.1128/AAC.01099-15. Epub 2015 Aug 17.
Impact factor:
Publication type: Paper in international publication
Authors: Burgos, Joaquin; Crespo, Manel; Curran, Adrian; Falco, Vicenc; Lopez, Rosa Maria; Marti, Ramon; Melia, Maria Jesus; Navarro, Jordi; Ocana, Inma; Perez, Merce et al.
DOI: 10.1128/AAC.01099-15

Report on the EUROMAC McArdle Exercise Testing Workshop, Madrid, Spain, 11-12 July 2014.

PMID: 26159598
Journal: NEUROMUSCULAR DISORD
Year: 2015
Reference: Neuromuscul Disord. 2015 Sep;25(9):739-45. doi: 10.1016/j.nmd.2015.05.009. Epub 2015 May 27.
Impact factor:
Publication type: Paper in international publication
Authors: Godfrey, Richard; Lucia, Alejandro; Marti, Ramon; Pattni, Jatin; Quinlivan, Ros; Santalla, Alfredo; Scalco, Renata S et al.
DOI: 10.1016/j.nmd.2015.05.009

McArdle disease does not affect skeletal muscle fibre type profiles in humans.

PMID: 25432515
Journal: BIOL OPEN
Year: 2014
Reference: Biol Open. 2014 Nov 28;3(12):1224-7. doi: 10.1242/bio.20149548.
Impact factor:
Publication type: Letter or abstract
Authors: Arenas, Joaquin; Kohn, Tertius Abraham; Lucia, Alejandro; Martin, Miguel A; Noakes, Timothy David; Nogales-Gadea, Gisela; Pinos, Tomas; Rae, Dale Elizabeth; Rubio, Juan Carlos; Santalla, Alfredo et al.
DOI: 10.1242/bio.20149548

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.

PMID: 24362886
Journal: HUMAN MOLECULAR GENETICS
Year: 2014
Reference: Hum Mol Genet. 2014 May 1;23(9):2459-67. doi: 10.1093/hmg/ddt641. Epub 2013 Dec 20.
Impact factor:
Publication type: Paper in international publication
Authors: Caballero, Andrea; Camara, Yolanda; Gonzalez-Vioque, Emiliano; Hirano, Michio; Marti, Ramon; Scarpelli, Mauro; Torres-Torronteras, Javier et al.
DOI: 10.1093/hmg/ddt641

McArdle Disease: A Unique Study Model in Sports Medicine.

PMID: 25028051
Journal: SPORTS MEDICINE
Year: 2014
Reference: Sports Med. 2014 Nov;44(11):1531-44. doi: 10.1007/s40279-014-0223-5.
Impact factor:
Publication type: Review in international publication
Authors: Brull, Astrid; de Luna, Noemi; Lucia, Alejandro; Nogales-Gadea, Gisela; Ortenblad, Niels; Pinos, Tomas; Santalla, Alfredo et al.
DOI: 10.1007/s40279-014-0223-5

Palbociclib, a selective inhibitor of cyclin-dependent kinase4/6, blocks HIV-1 reverse transcription through the control of sterile alpha motif and HD domain-containing protein-1 (SAMHD1) activity.

PMID: 25036183
Journal: AIDS
Year: 2014
Reference: AIDS. 2014 Sep 24;28(15):2213-22. doi: 10.1097/QAD.0000000000000399.
Impact factor:
Publication type: Paper in international publication
Authors: Badia, Roger; Ballana, Ester; Clotet, Bonaventura; Este, Jose A; Marti, Ramon; Pauls, Eduardo; Permanyer, Marc; Riveira-Munoz, Eva; Ruiz, Alba; Torres-Torronteras, Javier et al.
DOI: 10.1097/QAD.0000000000000399

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.

PMID: 23034978
Journal: JOURNAL OF CHILD NEUROLOGY
Year: 2013
Reference: J Child Neurol. 2013 Nov;28(11):1531-1534. doi: 10.1177/0883073812460580. Epub 2012 Oct 3.
Impact factor:
Publication type: Paper in international publication
Authors: Bornstein, Belen; Del Toro, Mireia; Garcia-Arumi, Elena; Monlleo-Neila, Laura; Munell, Francina; Roig-Quilis, Manuel; Sarrias, Axel et al.
DOI: 10.1177/0883073812460580

Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA.

PMID: 23817075
Journal: DRUG DISCOVERY TODAY
Year: 2013
Reference: Drug Discov Today. 2013 Oct;18(19-20):950-7. doi: 10.1016/j.drudis.2013.06.009. Epub 2013 Jun 28.
Impact factor:
Publication type: Review in international publication
Authors: Camara, Yolanda; Gonzalez-Vioque, Emiliano; Marti, Ramon; Scarpelli, Mauro; Torres-Torronteras, Javier et al.
DOI: 10.1016/j.drudis.2013.06.009

The 'McArdle paradox': exercise is a good advice for the exercise intolerant.

PMID: 22753862
Journal: BRITISH JOURNAL OF SPORTS MEDICINE
Year: 2013
Reference: Br J Sports Med. 2013 Aug;47(12):728-9. doi: 10.1136/bjsports-2012-091130. Epub 2012 Jun 29.
Impact factor:
Publication type: Editorail in international publication
Authors: ; ; ; ; et al.
DOI: 10.1136/bjsports-2012-091130

Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

PMID: 24118886
Journal: GENES BRAIN AND BEHAVIOR
Year: 2013
Reference: Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089. Epub 2013 Oct 25.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Blanco-Grau, Albert; Bonaventura-Ibars, Inmaculada; Coll-Canti, Jaume; Garcia-Arumi, Elena; Martinez, Ramiro; Martinez-Gallo, Monica; Melia, Maria Jesus; Pinos, Tomas et al.
DOI: 10.1111/gbb.12089

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

PMID: 22045337
Journal: EMBO JOURNAL
Year: 2012
Reference: EMBO J. 2012 Jan 18;31(2):443-56. doi: 10.1038/emboj.2011.392. Epub 2011 Nov 1.
Impact factor:
Publication type: Paper in international publication
Authors: Brandt, Ulrich; Bratic, Ana; Camara, Yolanda; Erdjument-Bromage, Hediye; Gustafsson, Claes M; Hultenby, Kjell; Larsson, Nils-Goran; Metodiev, Metodi D; Milenkovic, Dusanka; Park, Chan Bae et al.
DOI: 10.1038/emboj.2011.392

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.

PMID: 23250880
Journal: BRAIN
Year: 2012
Reference: Brain. 2012 Dec;135(Pt 12):3584-98. doi: 10.1093/brain/aws292.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Bianchi, Patrizia; Ferrer, Isidre; Fourcade, Stephane; Galino, Jorge; Lopez-Erauskin, Jone; Munoz-Pinedo, Cristina; Pujol, Aurora et al.
DOI: 10.1093/brain/aws292

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

PMID: 23058913
Journal: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Year: 2012
Reference: Biochem Biophys Res Commun. 2012 Nov 30;428(4):532-7. doi: 10.1016/j.bbrc.2012.09.143. Epub 2012 Oct 8.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Errasti-Murugarren, Ekaitz; Garcia-Arumi, Elena; Godoy, Valeria; Huber-Ruano, Isabel; Marti, Ramon; Pastor-Anglada, Marcal; Vera, Angel et al.
DOI: 10.1016/j.bbrc.2012.09.143

The Eutherian Armcx genes regulate mitochondrial trafficking in neurons and interact with Miro and Trak2.

PMID: 22569362
Journal: Nature Communications
Year: 2012
Reference: Nat Commun. 2012 May 8;3:814. doi: 10.1038/ncomms1829.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Alba; Alonso, Maria Teresa; Andreu, Antoni L; Burgaya, Ferran; D'Aniello, Salvatore; Garcia-Arumi, Elena; Garcia-Fernandez, Jordi; Garcia-Sancho, Javier; Lopez-Domenech, Guillermo; Mirra, Serena et al.
DOI: 10.1038/ncomms1829

MTERF4 regulates translation by targeting the methyltransferase NSUN4 to the mammalian mitochondrial ribosome.

PMID: 21531335
Journal: Cell Metabolism
Year: 2011
Reference: Cell Metab. 2011 May 4;13(5):527-39. doi: 10.1016/j.cmet.2011.04.002.
Impact factor:
Publication type: Paper in international publication
Authors: Asin-Cayuela, Jorge; Camara, Yolanda; Erdjument-Bromage, Hediye; Franz, Thomas; Gustafsson, Claes M; Habermann, Bianca; Hallberg, B Martin; Hultenby, Kjell; Kukat, Christian; Larsson, Nils-Goran et al.
DOI: 10.1016/j.cmet.2011.04.002

Thymidine kinase 2 deficiency-induced mitochondrial DNA depletion causes abnormal development of adipose tissues and adipokine levels in mice.

PMID: 22216345
Journal: PLoS One
Year: 2011
Reference: PLoS One. 2011;6(12):e29691. Epub 2011 Dec 27.
Impact factor:
Publication type: Paper in international publication
Authors: Domingo, Pere; Dorado, Beatriz; Garcia-Arumi, Elena; Giralt, Marta; Hirano, Michio; Vila, Maya R; Villarroya, Francesc; Villarroya, Joan et al.
DOI: 10.1371/journal.pone.0029691

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.

PMID: 21979051
Journal: NATURE
Year: 2011
Reference: Nature. 2011 Oct 5;478(7367):114-8. doi: 10.1038/nature10490.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, Rizwan; Arany, Zoltan; Barton, Paul J R; Bottolo, Leonardo; Braithwaite, Adam; Buchan, Rachel; Canas, Xavier; Cardona, Maria; Comella, Joan X; Cook, Stuart A et al.
DOI: 10.1038/nature10490

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.

PMID: 21856449
Journal: MITOCHONDRION
Year: 2011
Reference: Mitochondrion. 2011 Nov;11(6):905-8. Epub 2011 Aug 11.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.mito.2011.08.002

Uridine Metabolism in HIV-1-Infected Patients: Effect of Infection, of Antiretroviral Therapy and of HIV-1/ART-Associated Lipodystrophy Syndrome.

PMID: 21085568
Journal: PLoS One
Year: 2010
Reference: PLoS One. 2010 Nov 15;5(11):e13896.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1371/journal.pone.0013896

Human SHBG mRNA Translation Is Modulated by Alternative 5'-Non-Coding Exons 1A and 1B.

PMID: 21079794
Journal: PLoS One
Year: 2010
Reference: PLoS One. 2010 Nov 4;5(11):e13844.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; et al.
DOI: 10.1371/journal.pone.0013844

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

PMID: 20683610
Journal: EUROPEAN JOURNAL OF APPLIED PHYSIOLOGY
Year: 2010
Reference: Eur J Appl Physiol. 2010 Nov;110(5):1047-55. Epub 2010 Aug 4.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1007/s00421-010-1585-5

Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle's Disease Carrying the p.R771PfsX33 PYGM Mutation.

PMID: 20957198
Journal: PLoS One
Year: 2010
Reference: PLoS One. 2010 Oct 5;5(10). pii: e13164.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Garcia-Consuegra, Ines; Gomez-Foix, Anna M; Lucia, Alejandro; Marti, Ramon; Martin, Miguel A; Mormeneo, Emma; Nogales-Gadea, Gisela; Orozco, Anna et al.
DOI: 10.1371/journal.pone.0013164

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

PMID: 19028666
Journal: HUMAN MOLECULAR GENETICS
Year: 2009
Reference: Hum Mol Genet. 2009 Feb 15;18(4):714-22. Epub 2008 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Akman, Hasan O; Bonilla, Eduardo; Dorado, Beatriz; Garcia-Cazorla, Angeles; Hirano, Michio; Lopez, Luis C; Marti, Ramon; Nishino, Ichizo; Pizzorno, Giuseppe; Shungu, Dikoma et al.
DOI: 10.1093/hmg/ddn401

Glycogen Storage Disease Type V

PMID: 20301518
Journal:
Year: 2009
Reference:
Impact factor:
Publication type: Letter or abstract
Authors: Andreu, Antonio L; Arenas, Joaquin; Martin, Miguel A et al.
DOI:

Identification, characterization and expression of novel Sex Hormone Binding Globulin alternative first exons in the human prostate.

PMID: 19534810
Journal: BMC MOLECULAR BIOLOGY
Year: 2009
Reference: BMC Mol Biol. 2009 Jun 17;10:59.
Impact factor:
Publication type: Paper in international publication
Authors: Barbosa-Desongles, Anna; de Torres, Ines; Hurtado, Antoni; Morote, Joan; Munell, Francina; Pinos, Tomas; Reventos, Jaume; Santamaria-Martinez, Albert et al.
DOI: 10.1186/1471-2199-10-59

The second wind phenomenon in very young McArdle's patients.

PMID: 19477644
Journal: NEUROMUSCULAR DISORDERS
Year: 2009
Reference: Neuromuscul Disord. 2009 Jun;19(6):403-5.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Fernandez Del Valle, Maria; Lucia, Alejandro; Nogales-Gadea, Gisela; Perez, Margarita; Ruiz, Jonatan R et al.
DOI: 10.1016/j.nmd.2009.04.010

Estrogen receptor beta displays cell cycle-dependent expression and regulates the G1 phase through a non-genomic mechanism in prostate carcinoma cells.

PMID: 18607069
Journal: CELLULAR ONCOLOGY
Year: 2008
Reference: Cell Oncol. 2008;30(4):349-65.
Impact factor:
Publication type: Paper in international publication
Authors: Barbosa-Desongles, Anna; Barquinero, Jordi; Bellmunt, Joaquim; de Torres, Ines; Hurtado, Antoni; Lopez-Aviles, Sandra; Morote, Joan; Munell, Francina; Petriz, Jordi; Pinos, Tomas et al.
DOI:

Thesis

Hepatoencefalopatia deguda a mutacions en GFM1: obtenció d’un model de ratolí modificat genèticament i estudi preclínic de teràpia gènica amb vectors adenoassociats

PhD student: Miguel Molina Berenguer
Director/s: Javier Torres Torronteras, Ramon Martí Seves
University: Universitat Autònoma de Barcelona
Year: 2023

Avenços en la teràpia gènica per al MNGIE amb vectors adenoassociats: Validació en un model millorat de la malaltia i optimització de seqüència del gen terapèutic.

PhD student: Ferran Vila Julià
Director/s: Ramon Martí Seves, Javier Torres Torronteras
University: Universidad Autònoma de Barcelona
Year: 2021

Nous mecanismes de control en l’homeòstasi dels dNTPs mitocondrials: Paper de la proteïna NDUFA10 en la disponibilitat del dGTP.

PhD student: David Molina Granada
Director/s: Ramon Martí Seves, Yolanda Cámara Navarro
University: Universidad Autònoma de Barcelona
Year: 2021

Caracterización histológica, molecular y metabólica de la progresión fenotípica de la enfermedad de McArdle en el modelo murino

PhD student: Alberto Real Martinez, Alberto Real Martinez
Director/s: Tomàs Pinós Figueras
University: Universidad Autònoma de Barcelona
Year: 2020

Modelos celulares de la enfermedad de McArdle; evaluacion de la terapia farmacológica con agentes read-through, características del metabolismo energético y de la vía de la autofagia

PhD student: Guillermo Tarrasó Urios, Guillermo Tarrasó Urios, Guillermo Tarrasó Urios
Director/s: Tomàs Pinós Figueras
University: Universidad Autònoma de Barcelona
Year: 2020

Estimulación de la síntesis de nucleótidos como tratamiento de los defectos en la replicación del ADN mitocondrial

PhD student: Cora Blazquez Bermejo
Director/s: Yolanda Cámara Navarro, Ramon Martí Seves
University: Universidad Autònoma de Barcelona
Year: 2019

Terapia génica para el MNGIE: Estudio comparativo de diferentes vectores adeno-asociados en el modelo preclínico de la enfermedad.

PhD student: Raquel Cabrera Perez
Director/s: Ramon Martí Seves
University: Universidad Autònoma de Barcelona
Year: 2017

Configuración de una estrategia para identificación genético-molecular de pacientes OXPHOS

PhD student: Lidia Carreño Gago, Lidia Carreño Gago
Director/s: Elena García Arumí
University: Universidad Autònoma de Barcelona
Year: 2017

New insights into McArdle disease: Characterization of the murine model and development of new diagnosis and therapeutic approaches

PhD student: Astrid Brull Cañagueral
Director/s: Tomàs Pinós Figueras, Antonio Luis Andreu Périz
University: Universidad Autònoma de Barcelona
Year: 2015

Efecto de las mutaciones en el ADN mitocondrial sobre la expresión de genes implicados en la función mitocondrial

PhD student: Marc Cuadros Arasa, Marc Cuadros Arasa
Director/s: Elena García Arumí
University: Universidad Autònoma de Barcelona
Year: 2013

Estudios preclínicos de la terapia génica basada en células madre hematopoyéticas para el MNGIE

PhD student: Javier Torres Torronteras
Director/s: Ramón Martí Seves, Jordi Barquinero Mañez
University: Universitat Autònoma de Barcelona
Year: 2011

Estudio de la fisiopatologia de la enfermedad de McArdle: análisis trancriptómicos en pacientes y caracterización de modelos experimentales

PhD student: Gisela Nogales Gadea
Director/s: Antonio Luis Andreu Périz, Ramon Martí Seves
University: Universitat de Barcelona
Year: 2008

Alteración del metabolismo de los nucleótidos en enfermedades mitocondriales causadas por defectos en la comunicación intergenómica

PhD student: Maria del Carmen Lara Castillo
Director/s: Ramon Martí Seves
University: Universitat de Barcelona
Year: 2008

Papel de las mutaciones del ADNmt en la producción de daño oxidativo mediado por ROS en un modelo de cíbridos transmitocondriales.

PhD student: Ricardo Gonzalo Sanz
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2005

Paper de les mutacions del mtDNA en la modulació del sistema antioxidant. Estudi en un model de cíbrids transmitocondrials.

PhD student: Cristòfol Vives Bauzà
Director/s: Antonio Luis Andreu Périz, Elena García Arumí
University: Universitat de Barcelona
Year: 2004

Contribución a la caracterización clínica y genética de la enfermedad de mcardle

PhD student: Josep Gamez Carbonell
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2002

Analisi genetico-molecular d'una nova forma de distrofia muscular de maluc autosomica dominant en un extens pedigri.

PhD student: Lluís Palenzuela Díaz
Director/s:
University: Universidad Autònoma de Barcelona
Year: 2002

Blog

News

The meeting was an opportunity to get to know projects from both institutions and to promote interaction between professionals.

The newly developed analytical workflow could in the future be introduced as a comprehensive diagnostic test for patients with mitochondrial diseases.

Rates

Check the current rates of the Neuromuscular and Mitochondrial Pathology research group.