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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

Antonio Luis Andreu Périz

Antonio Luis Andreu Périz

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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David Civit  Decabo

David Civit Decabo

Research technician
Neuromuscular and Mitochondrial Pathology
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Elena García Arumí

Elena García Arumí

Main researcher
Neuromuscular and Mitochondrial Pathology
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Javier Francisco Ramon Pasías

Javier Francisco Ramon Pasías

Postdoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Juan Luis Restrepo Vera

Juan Luis Restrepo Vera

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Miguel Molina Berenguer

Miguel Molina Berenguer

Research technician
Neuromuscular and Mitochondrial Pathology
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Antonio Luis Andreu Périz

Antonio Luis Andreu Périz

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
Read more
David Civit  Decabo

David Civit Decabo

Research technician
Neuromuscular and Mitochondrial Pathology
Read more
Elena García Arumí

Elena García Arumí

Main researcher
Neuromuscular and Mitochondrial Pathology
Read more
Javier Francisco Ramon Pasías

Javier Francisco Ramon Pasías

Postdoctoral researcher
Neuromuscular and Mitochondrial Pathology
Read more
Juan Luis Restrepo Vera

Juan Luis Restrepo Vera

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
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Miguel Molina Berenguer

Miguel Molina Berenguer

Research technician
Neuromuscular and Mitochondrial Pathology
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Research lines

Therapy approaches in McArdle's disease

IP: -

Projects

Identificación de factores reguladores de la función y estabilidad del complejo respiratorio mitocondrial I: explorando nuevas oportunidades terapéuticas (TARGETCOMPLEX-I)

IP: Yolanda Cámara Navarro
Collaborators: Miguel Molina Berenguer, Elena García Arumí, Javier Francisco Ramón Pasías, Andrea Férriz Gordillo, Izaskun Izagirre Urizar
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 275000
Reference: PID2023-147668OB-I00
Duration: 01/09/2024 - 31/12/2027

Ministerio de Ciencia

Study of the in vivo role of NDUFA10 beyond respiratory complex I assembly: a possible link between oxidative metabolism and nucleotide homeostasis

IP: Yolanda Cámara Navarro
Collaborators: Izaskun Izagirre Urizar
Funding agency: Fundació Institut de Recerca HUVH
Funding: 102820.06
Reference: VHIR-PHD-2023-011
Duration: 05/02/2024 - 04/02/2028

HUB D'INNOVACIÓ PEDIÀTRICA - I4KIDS

IP: Ramon Martí Seves
Collaborators: Alfons Macaya Ruíz, Lucas Moreno Martín-Retortillo
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2022 XARDI 00006
Duration: 01/01/2023 - 31/12/2025

Estudi de malalties neuromusculars i mitocondrials

IP: Ramon Martí Seves
Collaborators: Miguel Molina Berenguer, Elena García Arumí, Yolanda Cámara Navarro, Mª Jesus Melia Grimal, Tomàs Pinós Figueras, Javier Francisco Ramón Pasías, Andrea Férriz Gordillo, Mónica Azucena Villarreal Salazar
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 00894
Duration: 01/01/2022 - 30/06/2025

Publications

Aerobic capacity and muscle proteome: Insights from a mouse model.

PMID: 39572863
Journal: EXPERIMENTAL PHYSIOLOGY
Year: 2024
Reference: Exp Physiol. 2024 Nov 21. doi: 10.1113/EP092308.
Impact factor:
Publication type: Paper in international publication
Authors: Arenas, Joaquin; Fiuza-Luces, Carmen; Galvez, Beatriz G; Lopez-Ortiz, Susana; Lucia, Alejandro; Martin, Miguel A; Pinos, Tomas; Plaza-Florido, Abel; Santos-Lozano, Alejandro; Valenzuela, Pedro L et al.
DOI: 10.1113/EP092308

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

PMID: 36753892
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2023
Reference: J Neurol Sci. 2023 Mar 15;446:120565. doi: 10.1016/j.jns.2023.120565. Epub 2023 Jan 28.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Paula Fernandez; Arumi, Elena Garcia; Gratacos, Margarida; Hernandez-Vara, Jorge; Juntas, Raul; Lainez, Elena; Llaurado, Arnau; Martinez, Victoria Gonzalez; Raguer, Nuria; Salvado, Maria et al.
DOI: 10.1016/j.jns.2023.120565

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

PMID: 36959467
Journal: JOURNAL OF HUMAN GENETICS
Year: 2023
Reference: J Hum Genet. 2023 Aug;68(8):527-532. doi: 10.1038/s10038-023-01144-2. Epub 2023 Mar 23.
Impact factor:
Publication type: Paper in international publication
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Marti, Ramon; Martinez-Saez, Elena; Ramon, Javier; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria et al.
DOI: 10.1038/s10038-023-01144-2

An integral approach to the molecular diagnosis of tuberous sclerosis complex: the role of mosaicism and splicing variants.

PMID: 37356622
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2023
Reference: J Mol Diagn. 2023 Jun 23:S1525-1578(23)00134-4. doi: 10.1016/j.jmoldx.2023.06.006.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Blasco-Perez, Laura; Camprodon-Gomez, Maria; Garcia-Arumi, Elena; Iranzo-Nuez, Leticia; Lopez-Ortega, Ricard; Martinez-Cruz, Desiree; Tenes, Anna; Tizzano, Eduardo F et al.
DOI: 10.1016/j.jmoldx.2023.06.006

Distinctive gastrointestinal motor dysfunction in patients with MNGIE.

PMID: 37448106
Journal: NEUROGASTROENTEROLOGY AND MOTILITY
Year: 2023
Reference: Neurogastroenterol Motil. 2023 Jul 13:e14643. doi: 10.1111/nmo.14643.
Impact factor:
Publication type: Paper in international publication
Authors: Accarino, Anna; Alcala-Gonzalez, Luis G; Azpiroz, Fernando; Llaurado, Arnau; Malagelada, Carolina; Ramon, Ramon; Ramon, Ramon; Sanchez-Tejerina, Daniel et al.
DOI: 10.1111/nmo.14643

An Atypical Presentation of Upper Motor Neuron Predominant Juvenile Amyotrophic Lateral Sclerosis Associated with TARDBP Gene: A Case Report and Review of the Literature.

PMID: 36011394
Journal: Genes
Year: 2022
Reference: Genes (Basel). 2022 Aug 19;13(8). pii: genes13081483. doi: 10.3390/genes13081483.
Impact factor:
Publication type: Letter or abstract
Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Raguer, Nuria; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel; Sotoca, Javier et al.
DOI: 10.3390/genes13081483

Effect of Resveratrol Content in Red Wine on Circulating Sex Hormone-Binding Globulin: Lessons from a Pilot Clinical Trial.

PMID: 35751841
Journal: MOLECULAR NUTRITION & FOOD RESEARCH
Year: 2022
Reference: Mol Nutr Food Res. 2022 Aug;66(16):e2200125. doi: 10.1002/mnfr.202200125. Epub 2022 Jul 1.
Impact factor:
Publication type: Paper in international publication
Authors: Brianso-Llort, Laura; Hernandez, Cristina; Ramos-Perez, Lorena; Selva, David M; Simo, Rafael; Simo-Servat, Olga; Torres-Torronteras, Javier et al.
DOI: 10.1002/mnfr.202200125

Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.

PMID: 35739187
Journal: Communications Biology
Year: 2022
Reference: Commun Biol. 2022 Jun 23;5(1):620. doi: 10.1038/s42003-022-03568-6.
Impact factor:
Publication type: Paper in international publication
Authors: Cabrera-Perez, Raquel; Camara, Yolanda; Dibley, Marris G; Gonzalez-Vioque, Emiliano; Marti, Ramon; Molina-Granada, David; Ryan, Michael T; Sazanov, Leonid A; Torres-Torronteras, Javier; Vallbona-Garcia, Antoni et al.
DOI: 10.1038/s42003-022-03568-6

232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 - 18 June 2017, Heemskerk, The Netherlands.

PMID: 35641351
Journal: NEUROMUSCULAR DISORDERS
Year: 2022
Reference: Neuromuscul Disord. 2022 Jul;32(7):609-620. doi: 10.1016/j.nmd.2022.05.008. Epub 2022 May 14.
Impact factor:
Publication type: Paper in international publication
Authors: Camara, Yolanda; Hirano, Michio; Lopez-Gomez, Carlos; Marti, Ramon et al.
DOI: 10.1016/j.nmd.2022.05.008

Preclinical assessment of a gene editing approach in a mouse model of Mitochondrial NeuroGastroIntestinal Encephalomyopathy.

PMID: 34498979
Journal: HUMAN GENE THERAPY
Year: 2021
Reference: Hum Gene Ther. 2021 Oct;32(19-20):1210-1223. doi: 10.1089/hum.2021.152.
Impact factor:
Publication type: Paper in international publication
Authors: Barquinero, Jordi; Borros, Salvador; Comes, Natalia; Fan, Steven H Y; Fornaguera, Cristina; Marti, Ramon; Oh, Sejin; Pares, Marta; Tam, Ying K; Vidal, Francisco et al.
DOI: 10.1089/hum.2021.152

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.

PMID: 34441767
Journal: Journal of Clinical Medicine
Year: 2021
Reference: J Clin Med. 2021 Aug 5;10(16). pii: jcm10163471. doi: 10.3390/jcm10163471.
Impact factor:
Publication type: Paper in international publication
Authors: Carreno-Gago, Lidia; Garcia-Arumi, Elena; Garrabou, Gloria; Grau, Josep Maria; Juarez-Flores, Diana Luz; Lozano, Ester; Marti, Ramon; Ramon, Javier; Vila-Julia, Ferran et al.
DOI: 10.3390/jcm10163471

Therapy Prospects for Mitochondrial DNA Maintenance Disorders.

PMID: 34208592
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Jun 16;22(12). pii: ijms22126447. doi: 10.3390/ijms22126447.
Impact factor:
Publication type: Review in international publication
Authors: Camara, Yolanda; Garcia-Arumi, Elena; Marti, Ramon; Melia, Maria Jesus; Molina-Berenguer, Miguel; Molina-Granada, David; Ramon, Javier; Torres-Torronteras, Javier; Vila-Julia, Ferran et al.
DOI: 10.3390/ijms22126447

Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.

PMID: 33142000
Journal: Journal of Genetic Counseling
Year: 2021
Reference: J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3.
Impact factor:
Publication type: Paper in international publication
Authors: Abuli, Anna; Borregan, Mar; Brignani, Eduardo; Brun-Gasca, Carme; Codina-Sola, Marta; Cruz, Jordi; Cueto-Gonzalez, Anna; Cusco, Ivon; Garci-Espejo, Regla; Garcia-Arumi, Elena et al.
DOI: 10.1002/jgc4.1354

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).

PMID: 33054807
Journal: Orphanet Journal of Rare Diseases
Year: 2020
Reference: Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Andreu, Antoni L; Baruch, Noemi; Bruno, Claudio; Bruno, Claudio; Durmus, Hacer; Hadjgeorgiou, Georgios; Hadjigeorgiou, Georgios M; Haller, Ronald; Haller, Ronald G et al.
DOI: 10.1186/s13023-020-01455-z

Yeast Ppz1 protein phosphatase toxicity involves the alteration of multiple cellular targets.

PMID: 32973189
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Sep 24;10(1):15613. doi: 10.1038/s41598-020-72391-y.
Impact factor:
Publication type: Paper in international publication
Authors: Albacar, Marcel; Arino, Joaquin; Calafi, Carlos; Casamayor, Antonio; Daignan-Fornier, Bertrand; Jensen, Ole N; Kovalchuk, Sergey I; Lopez-Malo, Maria; Marti, Ramon; Pinson, Benoit et al.
DOI: 10.1038/s41598-020-72391-y

Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

PMID: 32619640
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2020
Reference: J Mol Diagn. 2020 Sep;22(9):1205-1215. doi: 10.1016/j.jmoldx.2020.06.008. Epub 2020 Jun 30.
Impact factor:
Publication type: Paper in international publication
Authors: Armstrong, Judith; Artuch, Rafael; Ayuso, Carmen; Balcells, Susanna; Barbetti, Fabrizio; Beltran, Sergi; Benitez, Javier; Bianchi, Paola; Brice, Alexis; Bullich, Gemma et al.
DOI: 10.1016/j.jmoldx.2020.06.008

Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance.

PMID: 32655483
Journal: Frontiers in Neurology
Year: 2020
Reference: Front Neurol. 2020 Jun 19;11:541. doi: 10.3389/fneur.2020.00541. eCollection 2020.
Impact factor:
Publication type: Paper in international publication
Authors: de Paoli, Frank Vincenzo; Dybdahl, Kamilla Lohde Tordrup; Husted, Kristian Soborg; Krag, Thomas Oliver Brogger; Leermakers, Pieter Arnold; Pedersen, Thomas Holm; Pinos, Tomas; Riisager, Anders; Vissing, John et al.
DOI: 10.3389/fneur.2020.00541

Deoxynucleoside therapy for thymidine kinase 2 (TK2) deficient myopathy.

PMID: 31125140
Journal: ANNALS OF NEUROLOGY
Year: 2019
Reference: Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre-Rodriguez, Francisco Javier; Del Vayo, Concepcion Alvarez; Dominguez-Gonzalez, Cristina; Donati, M Alice; Engelstad, Kristen; Garone, Caterina; Hirano, Michio; Jimenez-Mallebrera, Cecilia; Kalko, Susana G; Kleinsteuber, Karin et al.
DOI: 10.1002/ana.25506

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

PMID: 31060578
Journal: Orphanet Journal of Rare Diseases
Year: 2019
Reference: Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.
Impact factor:
Publication type: Paper in international publication
Authors: Arenas, Joaquin; Badosa, Maria Carmen; Caballero, Candela; Diaz-Manera, Jordi; Dominguez-Gonzalez, Cristina; Encinar, Alberto Blazquez; Esteban, Jesus; Fernandez-Torron, Roberto; Fuiza-Luces, Carmen; Garcia Arumi, Elena et al.
DOI: 10.1186/s13023-019-1071-z

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

PMID: 30914683
Journal: Scientific Reports
Year: 2019
Reference: Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Brull, Astrid; de Luna, Noemi; Huerta, Jordi; Krag, Thomas O; Lucia, Alejandro; Martin, Miguel Angel; Nogales-Gadea, Gisela; Pinos, Tomas et al.
DOI: 10.1038/s41598-019-41414-8

The alpha-1-antitrypsin promoter improves the efficacy of an AAV vector for the treatment of MNGIE.

PMID: 30900470
Journal: HUMAN GENE THERAPY
Year: 2019
Reference: Hum Gene Ther. 2019 Aug;30(8):985-998. doi: 10.1089/hum.2018.217. Epub 2019 Apr 24.
Impact factor:
Publication type: Paper in international publication
Authors: Cabrera-Perez, Raquel; Hirano, Michio; Marti, Ramon; Mingozzi, Federico; Torres-Torronteras, Javier; Vila-Julia, Ferran et al.
DOI: 10.1089/hum.2018.217

Retrospective natural history of thymidine kinase 2 deficiency.

PMID: 29602790
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2018
Reference: J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.
Impact factor:
Publication type: Paper in international publication
Authors: Barca, Emanuele; Camara, Yolanda; Chakrapani, Anupam; Chinnery, Patrick F; DiMauro, Salvatore; Dominguez-Carral, Jana; Dominguez-Gonzalez, Cristina; Donati, Maria Alice; Emperador, Sonia; Evans, Julie C et al.
DOI: 10.1136/jmedgenet-2017-105012

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

PMID: 29555933
Journal: Scientific Reports
Year: 2018
Reference: Sci Rep. 2018 Mar 19;8(1):5046. doi: 10.1038/s41598-018-23159-y.
Impact factor:
Publication type: Letter or abstract
Authors: Brianso-Llort, Laura; Hammond, Geoffrey L; Saez-Lopez, Cristina; Selva, David M; Simo, Rafael; Torres-Torronteras, J et al.
DOI: 10.1038/s41598-018-23159-y

Cardiomyocyte hypertrophy induced by Endonuclease G deficiency requires reactive oxygen radicals accumulation and is inhibitable by the micropeptide humanin.

PMID: 29502044
Journal: Redox Biology
Year: 2018
Reference: Redox Biol. 2018 Jun;16:146-156. doi: 10.1016/j.redox.2018.02.021. Epub 2018 Mar 1.
Impact factor:
Publication type: Paper in international publication
Authors: Barba, Ignasi; Bares, Gisel; Bea, Aida; Blasco, Natividad; Camara, Yolanda; Forne, Carles; Garcia-Arumi, Elena; Garcia-Dorado, David; Giron, Cristina; Llovera, Marta et al.
DOI: 10.1016/j.redox.2018.02.021

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.

PMID: 29482911
Journal: NEUROMUSCULAR DISORDERS
Year: 2018
Reference: Neuromuscul Disord. 2018 Apr;28(4):374-375. doi: 10.1016/j.nmd.2018.01.011. Epub 2018 Jan 31.
Impact factor:
Publication type: Letter or abstract
Authors: Ariatti, Lorenzo Alessandra; Carnicer-Caceres, Clara; Carreno-Gago, Lidia; de Luna, Noemi; Garcia-Arumi, Elena; Pinos, Tomas; Russignan, Anna; Scarpelli, Mauro; Tonin, Paola; Verriello, Grazia Devigili et al.
DOI: 10.1016/j.nmd.2018.01.011

Polyphosphate is a key factor for cell survival after DNA damage in eukaryotic cells.

PMID: 28822913
Journal: DNA REPAIR
Year: 2017
Reference: DNA Repair (Amst). 2017 Sep;57:171-178. doi: 10.1016/j.dnarep.2017.08.001. Epub 2017 Aug 8.
Impact factor:
Publication type: Paper in international publication
Authors: Bru, Samuel; Clotet, Josep; Gari, Eloi; Hernandez-Ortega, Sara; Jimenez, Javier; Marti, Ramon; Martinez-Lainez, Joan M; Quandt, Eva; Rafel, Marta; Ribeiro, Mariana P C et al.
DOI: 10.1016/j.dnarep.2017.08.001

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases.

PMID: 28740091
Journal: Scientific Reports
Year: 2017
Reference: Sci Rep. 2017 Jul 24;7(1):6209. doi: 10.1038/s41598-017-06553-w.
Impact factor:
Publication type: Paper in international publication
Authors: Armengod, M-Eugenia; Boix, Olga; Boutoual, Rachid; Emperador, Sonia; Garcia-Arumi, Elena; Meseguer, Salvador; Montoya, Julio; Navarro-Gonzalez, Carmen; Villarroya, Magda et al.
DOI: 10.1038/s41598-017-06553-w

Influence of mitochondrial genetics on the mitochondrial toxicity of Linezolid in blood cells and skin nerve fibers

PMID: 28674062
Journal: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY
Year: 2017
Reference: Antimicrob Agents Chemother. 2017 Aug 24;61(9). pii: AAC.00542-17. doi: 10.1128/AAC.00542-17. Print 2017 Sep.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A L; Cardellach, F; Casanova-Molla, J; Catalan-Garcia, M; Garcia-Arumi, E; Garrabou, G; Lozano, E; Mensa, J; Milisenda, J C; Montoya, J et al.
DOI: 10.1128/AAC.00542-17

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

PMID: 27613247
Journal: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Year: 2017
Reference: Biochim Biophys Acta. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7.
Impact factor:
Publication type: Paper in international publication
Authors: Aller-Alvarez, Juan Sebastian; Alvarez de la Campa, Elena; Camara, Yolanda; Carreno-Gago, Lidia; de la Cruz, Xavier; Galan, Alicia; Gamez, Josep; Garcia-Arumi, Elena; Moncho, Dulce; Pinos, Tomas et al.
DOI: 10.1016/j.bbadis.2016.09.002

Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

PMID: 27030740
Journal: JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
Year: 2016
Reference: J Neuropathol Exp Neurol. 2016 May;75(5):441-54. doi: 10.1093/jnen/nlw018. Epub 2016 Mar 30.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Brull, Astrid; Krag, Thomas O; Nielsen, Tue L; Pinos, Tomas; Vissing, John et al.
DOI: 10.1093/jnen/nlw018

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

Therapeutic Approaches in Mitochondrial Dysfunction, Proteolysis, and Structural Alterations of Diaphragm and Gastrocnemius in Rats With Chronic Heart Failure.

PMID: 26530247
Journal: JOURNAL OF CELLULAR PHYSIOLOGY
Year: 2016
Reference: J Cell Physiol. 2016 Jul;231(7):1495-513. doi: 10.1002/jcp.25241. Epub 2015 Nov 20.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Barreiro, Esther; Chacon-Cabrera, Alba; Garcia-Arumi, Elena; Marin-Corral, Judith; Mateu, Xavier; Molina, Luis; Puente-Maestu, Luis; Puig-Vilanova, Ester; Salazar-Degracia, Anna et al.
DOI: 10.1002/jcp.25241

Differential glucose metabolism in mice and humans affected by McArdle disease.

PMID: 27280431
Journal: AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY
Year: 2016
Reference: Am J Physiol Regul Integr Comp Physiol. 2016 Aug 1;311(2):R307-14. doi: 10.1152/ajpregu.00489.2015. Epub 2016 Jun 8.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Duran, Jordi; Garcia-Rocha, Mar; Krag, Thomas O; Nielsen, Tue L; Pinos, Tomas; Vissing, John et al.
DOI: 10.1152/ajpregu.00489.2015

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

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

PMID: 26264513
Journal: BRAIN
Year: 2015
Reference: Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.
Impact factor:
Publication type: Paper in international publication
Authors: Accarino, Anna; Bakker, Jaap A; Barba, Pere; Beguin, Yves; Boelens, Jaap J; Casali, Carlo; Chinnery, Patrick F; Collin, Matthew; de Coo, Irenaeus F M; Dotti, Maria T et al.
DOI: 10.1093/brain/awv226

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

PMID: 26228546
Journal: MUSCLE NERVE
Year: 2015
Reference: Muscle Nerve. 2015 Dec;52(6):1136-7. doi: 10.1002/mus.24789. Epub 2015 Sep 24.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Brull, Astrid; Lucia, Alejandro; Martin, Miguel Angel; Nogales-Gadea, Gisela; Pinos, Tomas et al.
DOI: 10.1002/mus.24789

Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

PMID: 25873271
Journal: J PHYSIOL-LONDON
Year: 2015
Reference: J Physiol. 2015 Jun 15;593(12):2693-706. doi: 10.1113/JP270085. Epub 2015 May 18.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Blanco-Grau, Albert; Brull, Astrid; de Luna, Noemi; Lucia, Alejandro; Marti, Ramon; Martin, Miguel Angel; Pinos, Tomas et al.
DOI: 10.1113/JP270085

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

Cell cycle control and HIV-1 susceptibility are linked by CDK6-dependent CDK2 phosphorylation of SAMHD1 in myeloid and lymphoid cells.

PMID: 25015816
Journal: JOURNAL OF IMMUNOLOGY
Year: 2014
Reference: J Immunol. 2014 Aug 15;193(4):1988-97. doi: 10.4049/jimmunol.1400873. Epub 2014 Jul 11.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Mar; Badia, Roger; Ballana, Ester; Brander, Christian; Clotet, Bonaventura; Crespo, Manel; Este, Jose A; Gubern, Albert; Keppler, Oliver T; Marti, Ramon et al.
DOI: 10.4049/jimmunol.1400873

Downregulation of duodenal SLC transporters and activation of proinflammatory signaling constitute the early response to high altitude in humans.

PMID: 24970780
Journal: AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
Year: 2014
Reference: Am J Physiol Gastrointest Liver Physiol. 2014 Oct 1;307(7):G673-88. doi: 10.1152/ajpgi.00353.2013. Epub 2014 Jun 26.
Impact factor:
Publication type: Paper in international publication
Authors: Cee, Alexandra; Fried, Michael; Fruhauf, Heiko; Gassmann, Max; Geier, Andreas; Gotze, Oliver; Lang, Silvia; Lutz, Thomas A; Maggiorini, Marco; Marti, Ramon et al.
DOI: 10.1152/ajpgi.00353.2013

SAMHD1 specifically affects the antiviral potency of thymidine analog HIV reverse transcriptase inhibitors.

PMID: 24913159
Journal: ANTIMICROBIAL AGENTS AND CHEMOTHERAPY
Year: 2014
Reference: Antimicrob Agents Chemother. 2014 Aug;58(8):4804-13. doi: 10.1128/AAC.03145-14. Epub 2014 Jun 9.
Impact factor:
Publication type: Paper in international publication
Authors: Badia, Roger; Ballana, Ester; Clotet, Bonaventura; Este, Jose A; Marti, Ramon; Pauls, Eduardo; Riveira-Munoz, Eva; Ruiz, Alba; Terradas, Gerard; Torres-Torronteras, Javier et al.
DOI: 10.1128/AAC.03145-14

Genes involved in hemorrhagic transformations that follow recombinant t-PA treatment in stroke patients.

PMID: 23556447
Journal: PHARMACOGENOMICS
Year: 2013
Reference: Pharmacogenomics. 2013 Apr;14(5):495-504. doi: 10.2217/pgs.13.19.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Sabin, Jose; Chacon, Pilar; Delgado, Pilar; Domingues-Montanari, Sophie; Fernandez-Cadenas, Israel; Fernandez-Morales, Jessica; Garcia-Arumi, Elena; Hernandez-Guillamon, Mar; Mendioroz, Maite; Molina, Carlos A et al.
DOI: 10.2217/pgs.13.19

Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.

PMID: 23884809
Journal: BRAIN
Year: 2013
Reference: Brain. 2013 Aug;136(Pt 8):2369-78. doi: 10.1093/brain/awt196.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Bender, Andreas; Bove, Jordi; Elstner, Matthias; Garcia-Arumi, Elena; Klopstock, Thomas; Laub, Christoph; Melia, M Jesus; Mounsey, Ross B; Perier, Celine et al.
DOI: 10.1093/brain/awt196

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

PMID: 23543484
Journal: BRAIN
Year: 2013
Reference: Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Bonilla, Eduardo; Fernandez-Cadenas, Israel; Gamez, Josep; Garcia-Arumi, Elena; Hirano, Michio; Kubota, Akatsuki; Marti, Ramon; Melia, Maria J; Navarro, Carmen et al.
DOI: 10.1093/brain/awt074

Mitochondrial dysfunction and therapeutic approaches in respiratory and limb muscles of cancer cachectic mice.

PMID: 23625954
Journal: EXPERIMENTAL PHYSIOLOGY
Year: 2013
Reference: Exp Physiol. 2013 Sep;98(9):1349-65. doi: 10.1113/expphysiol.2013.072496. Epub 2013 Apr 26.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Bal de Kier Joffe, Elisa D; Barreiro, Esther; Fermoselle, Clara; Garcia-Arumi, Elena; Puente-Maestu, Luis; Puig-Vilanova, Ester; Tejedor, Alberto; Urtreger, Alejandro J et al.
DOI: 10.1113/expphysiol.2013.072496

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

PMID: 22730558
Journal: BRAIN
Year: 2012
Reference: Brain. 2012 Jul;135(Pt 7):2048-57. Epub 2012 Jun 21.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1093/brain/aws141

A Transcriptomic Approach to Search for Novel Phenotypic Regulators in McArdle Disease.

PMID: 22347505
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(2):e31718. Epub 2012 Feb 9.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Camara, Yolanda; Consuegra-Garcia, Ines; Cuadros, Marc; Fiuza-Luces, Carmen; Garcia-Arumi, Elena; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela et al.
DOI: 10.1371/journal.pone.0031718

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort.

PMID: 21274636
Journal: AGE
Year: 2012
Reference: Age (Dordr). 2012 Feb;34(1):227-33. Epub 2011 Jan 28.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1007/s11357-011-9209-5

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

PMID: 22250184
Journal: JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Year: 2012
Reference: J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1136/jnnp-2011-301593

"Progress" Renders Detrimental an Ancient Mitochondrial DNA Genetic Variant.

PMID: 21828074
Journal: HUMAN MOLECULAR GENETICS
Year: 2011
Reference: Hum Mol Genet. 2011 Nov 1;20(21):4224-31. Epub 2011 Aug 9.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; et al.
DOI: 10.1093/hmg/ddr350

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

PMID: 20436523
Journal: BONE MARROW TRANSPLANTATION
Year: 2011
Reference: Bone Marrow Transplant. 2011 Mar;46(3):330-7. Epub 2010 May 3.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1038/bmt.2010.100

Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

PMID: 21483760
Journal: PLoS Genetics
Year: 2011
Reference: PLoS Genet. 2011 Mar;7(3):e1002035. Epub 2011 Mar 31.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Gonzalez-Vioque, Emiliano; Marti, Ramon; Torres-Torronteras, Javier et al.
DOI: 10.1371/journal.pgen.1002035

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.

PMID: 21453200
Journal: ANTIOXIDANTS & REDOX SIGNALING
Year: 2011
Reference: Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. Epub 2011 Jun 8.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1089/ars.2010.3877

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

PMID: 20421844
Journal: PEDIATRIC RESEARCH
Year: 2010
Reference: Pediatr Res. 2010 Aug;68(2):151-4.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1203/PDR.0b013e3181e33bbe

Novel role of ATPase subunit C targeting peptides beyond mitochondrial protein import.

PMID: 19889836
Journal: MOLECULAR BIOLOGY OF THE CELL
Year: 2010
Reference: Mol Biol Cell. 2010 Jan;21(1):131-9. Epub 2009 Nov 4.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Magrane, Jordi; Manfredi, Giovanni; Vives-Bauza, Cristofol et al.
DOI: 10.1091/mbc.E09-06-0483

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

PMID: 20227526
Journal: MITOCHONDRION
Year: 2010
Reference: Mitochondrion. 2010 Jun;10(4):362-8. Epub 2010 Mar 19.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.mito.2010.03.003

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.

PMID: 19094978
Journal: CLINICAL BIOCHEMISTRY
Year: 2009
Reference: Clin Biochem. 2009 May;42(7-8):742-5.
Impact factor:
Publication type: Paper in international publication
Authors: Artuch, Rafael; Bornstein, Belen; Briones, Paz; Gallardo, Ester; Garcia-Cazorla, Angels; Herrero-Martin, Dolores; Marti, Ramon; Martin, Miguel A; Montero, Raquel; Montoya, Julio et al.
DOI: 10.1016/j.clinbiochem.2008.10.027

FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

PMID: 19361580
Journal: MITOCHONDRION
Year: 2009
Reference: Mitochondrion. 2009 Jul;9(4):266-72.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antonio L; Briones, Paz; Garcia-Arumi, Elena; Garcia-Martinez, Celia; Gomez-Foix, Anna M; Guitart, Maria; Quintana, Ester et al.
DOI: 10.1016/j.mito.2009.03.007

Kidney androgen-regulated protein transgenic mice show hypertension and renal alterations mediated by oxidative stress.

PMID: 19332469
Journal: CIRCULATION
Year: 2009
Reference: Circulation. 2009 Apr 14;119(14):1908-17.
Impact factor:
Publication type: Paper in international publication
Authors: Bardaji, B; Barreiro, M L; Carretero, A; Garcia-Arumi, E; Gonzalez-Nunez, M; Grande, M T; Lopez-Novoa, J M; Meseguer, A; Montero, M A; Pascual, G et al.
DOI: 10.1161/CIRCULATIONAHA.108.808543

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

PMID: 19320016
Journal: HUMAN GENETICS
Year: 2009
Reference: Hum Genet. 2009 Apr;125(3):343.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A L; Arenas, J; Bautista, J; Cabello, A; Garcia-Consuegra, Ines; Jimenez, S; Lucia, A; Martin, M A; Nogales-Gadea, G; Rubio, J C et al.
DOI:

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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.

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