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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

Mª Jesus Melia Grimal

Mª Jesus Melia Grimal

Research technician
Neuromuscular and Mitochondrial Pathology
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Tomas Pinós Figueras

Tomas Pinós Figueras

Senior researcher
Neuromuscular and Mitochondrial Pathology
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Yolanda Cámara Navarro

Yolanda Cámara Navarro

Main researcher
Neuromuscular and Mitochondrial Pathology
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Mª Jesus Melia Grimal

Mª Jesus Melia Grimal

Research technician
Neuromuscular and Mitochondrial Pathology
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Tomas Pinós Figueras

Tomas Pinós Figueras

Senior researcher
Neuromuscular and Mitochondrial Pathology
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Yolanda Cámara Navarro

Yolanda Cámara Navarro

Main researcher
Neuromuscular and Mitochondrial Pathology
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Projects

Ayudas para la formación de profesorado universitario (FPU) 2021

IP: Ramon Martí Seves
Collaborators: Ayudas para la formación de profesorado universitario (FPU) 2021
Funding agency: Ministerio de Universidades
Funding: 73389.26
Reference: FPU21/03074
Duration: 01/01/2023 - 31/12/2026

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IP: Laia Perez Lasarte
Collaborators: Pau Mollá Zaragozá, Ramon Martí Seves
Funding agency: Fundació Institut de Recerca HUVH
Funding: 55810.89
Reference: VHIR/PHDPROGRAMME/2022/MOLLA
Duration: 01/06/2022 - 30/09/2025

Eficacia preclínica del uso de desoxiribonucleósidos como tratamiento para los síndromes de depleción/deleciones multiples del DNA mitocondrial (MDDS). Ampliación a causas genéticas no exploradas.

IP: Ramon Martí Seves
Collaborators: Miguel Molina Berenguer, Mª Jesus Melia Grimal, Javier Francisco Ramón Pasías
Funding agency: Instituto de Salud Carlos III
Funding: 153670
Reference: PI21/00554
Duration: 01/01/2022 - 31/12/2025

Desarrollo de una estrategia de terapia génica para la deficiencia combinada de la fosforilación oxidativa tipo 1 debido a mutaciones en GFM1.

IP: Ramon Martí Seves
Collaborators: Miguel Molina Berenguer
Funding agency: Fundación Invest. Médica Mutua Madrileña
Funding: 150000
Reference: AP176532021
Duration: 07/07/2021 - 06/07/2025

Publications

Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8.

PMID: 37216904
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2023
Reference: J Clin Endocrinol Metab. 2023 May 22:dgad280. doi: 10.1210/clinem/dgad280.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Caimari, Maria; Camats-Tarruella, Nuria; Campos, Ariadna; Clemente, Maria; Cobo, Patricia; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Masas, Miriam et al.
DOI: 10.1210/clinem/dgad280

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

PMID: 37121912
Journal: CLINICAL GENETICS
Year: 2023
Reference: Clin Genet. 2023 Apr 30. doi: 10.1111/cge.14351.
Impact factor:
Publication type: Paper in international publication
Authors: Ballesta-Martinez, Mary J; Codina-Sola, Marta; Cueto-Gonzalez, Anna M; Diaz-Gonzalez, Francisca; Heath, Karen E; Lucas-Castro, Elsa; Modamio-HOybjOr, Silvia; Parron-Pajares, Manuel; Prieto, Pablo; Santos-Simarro, Fernando et al.
DOI: 10.1111/cge.14351

Dose-response effect of pre-exercise carbohydrates under muscle glycogen unavailability: Insights from McArdle disease.

PMID: 38030066
Journal:
Year: 2023
Reference: J Sport Health Sci. 2023 Nov 27:S2095-2546(23)00115-1. doi: 10.1016/j.jshs.2023.11.006.
Impact factor:
Publication type: Paper in international publication
Authors: Alejo, Lidia B; Barranco-Gil, David; Bestard, Oriol; Bustos, Asuncion; Castellote-Belles, Laura; Couzi, Lionel; Fernandez-Ruiz, Mario; Ferrer-Costa, Roser; Kaminski, Hannah; Lucia, Alejandro et al.
DOI: 10.1016/j.jshs.2023.11.006

Postoperative complications after pancreatoduodenectomy for malignancy: results from the Recurrence After Whipple's (RAW) study.

PMID: 38036696
Journal: BJS Open
Year: 2023
Reference: BJS Open. 2023 Nov 1;7(6):zrad106. doi: 10.1093/bjsopen/zrad106.
Impact factor:
Publication type: Paper in international publication
Authors: Al-Sarrieh, Bilal A; Alejo, Lidia B; Alhaboob, Nassir; Aroori, Somaiah; Ausania, Fabio; Bari, Hassaan; Barranco-Gil, David; Bhogal, Ricky H; Bustos, Asuncion; Castellote-Belles, Laura et al.
DOI: 10.1093/bjsopen/zrad106

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.

PMID: 35617047
Journal: JOURNAL OF CLINICAL INVESTIGATION
Year: 2022
Reference: J Clin Invest. 2022 Jul 1;132(13). pii: 145660. doi: 10.1172/JCI145660.
Impact factor:
Publication type: Paper in international publication
Authors: Blakely, Emma L; Bonnen, Penelope E; Brown, Zuben P; Chinnery, Patrick F; Donaldson, Alan; Eyaid, Wafaa; Frank, Joachim; Gc, Jeevan B; Gorman, Grainne S; Hellebrekers, Debby Mei et al.
DOI: 10.1172/JCI145660

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

PMID: 33910934
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2022
Reference: J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Codina-Sola, Marta; Cueto-Gonzalez, Anna; Evangelista, Artur; Fernandez-Alvarez, Paula; Garcia-Arumi, Elena; Lopez-Grondona, Fermina; Paramonov, Ida; Teixido-Tura, Gisela; Tizzano, Eduardo F et al.
DOI: 10.1136/jmedgenet-2020-107604

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

PMID: 35569879
Journal: JOURNAL OF MOLECULAR DIAGNOSTICS
Year: 2022
Reference: J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
Impact factor:
Publication type: Paper in international publication
Authors: Alias, Laura; Alvarez-Mora, Maria Isabel; Amador, Daniel Pico; Arjona, Cesar; Armstrong, Judith; Artuch, Rafael; Aznar, Gemma; Balcells, Susanna; Bayes, Monica; Beltran, Sergi et al.
DOI: 10.1016/j.jmoldx.2022.02.003

Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.

PMID: 35563042
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Apr 22;23(9). pii: ijms23094650. doi: 10.3390/ijms23094650.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Asensio-Pena, Sara; Dominguez-Gonzalez, Cristina; Garcia-Consuegra, Ines; Garrido-Moraga, Rocio; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela; Pinos, Tomas et al.
DOI: 10.3390/ijms23094650

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

PMID: 32898308
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2021
Reference: J Inherit Metab Dis. 2021 Mar;44(2):376-387. doi: 10.1002/jimd.12300. Epub 2020 Sep 8.
Impact factor:
Publication type: Review in international publication
Authors: Accarino, Anna; Baldin, Elisa; Bax, Bridget Elizabeth; Bolletta, Alessio; Bolletta, Riccardo; Boschetti, Elisa; Carelli, Valerio; Cenacchi, Giovanna; Cescon, Matteo; D'Alessandro, Roberto et al.
DOI: 10.1002/jimd.12300

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.

PMID: 32253119
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3.
Impact factor:
Publication type: Paper in national publication
Authors: Amaro-Rodriguez, Rosanel; Amengual Pieras, Esther; Antolin, Maria; Armengot-Carceller, Miguel; Asensio de la Cruz, Oscar; Baz-Redon, Noelia; Caballero-Rabasco, M Araceli; Camats-Tarruella, Nuria; Castillo-Corullon, Silvia; Cols Roig, Maria et al.
DOI: 10.1016/j.arbres.2020.02.010

Phenotypic variability of patients with PAX8 variants presenting congenital hypothyroidism and eutopic thyroid.

PMID: 33029631
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2021
Reference: J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Blasco-Perez, Laura; Camats, Nuria; Campos-Martorell, Ariadna; Clemente, Maria; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Jaimes, Nadya; Mogas, Eduard et al.
DOI: 10.1210/clinem/dgaa711

Leigh syndrome associated with TRMU gene mutations.

PMID: 33365252
Journal: Molecular Genetics and Metabolism Reports
Year: 2021
Reference: Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar.
Impact factor:
Publication type: Paper in international publication
Authors: Arranz, Jose Antonio; Carnicer, Clara; Carreno, Lidia; de Las Heras, Javier; Del Toro, Mireia; Garcia-Arumi, Elena; Gort, Laura; Lasa-Aranzasti, Amaia; Miguel, Lucia Dougherty-de; Sala-Coromina, Julia et al.
DOI: 10.1016/j.ymgmr.2020.100690

Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy.

PMID: 32572108
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Jun 22;10(1):10111. doi: 10.1038/s41598-020-66940-8.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso-Perez, Jorge; Artuch, Rafael; Badosa, Carmen; Berardo, Andres; Blazquez-Bermejo, Cora; Camara, Yolanda; Cuadras, Daniel; Diaz-Manera, Jordi; Dominguez-Gonzalez, Cristina; Hirano, Michio et al.
DOI: 10.1038/s41598-020-66940-8

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

PMID: 32549991
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7:20. doi: 10.1038/s41439-020-0105-3. eCollection 2020.
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

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.

PMID: 32173566
Journal: MITOCHONDRION
Year: 2020
Reference: Mitochondrion. 2020 May;52:157-162. doi: 10.1016/j.mito.2020.03.004. Epub 2020 Mar 12.
Impact factor:
Publication type: Paper in international publication
Authors: Carreno-Gago, Lidia; Garcia-Arumi, Elena; Isabel Alvarez-Mora, Maria; Isabel Tejada, Maria; Izquierdo-Alvarez, Silvia; Madrigal, Irene; Martinez, Francisco; Mila, Montserrat; Rodriguez-Revenga, Laia; Santos, Cristina et al.
DOI: 10.1016/j.mito.2020.03.004

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

PMID: 31511858
Journal: HUMAN MOLECULAR GENETICS
Year: 2020
Reference: Hum Mol Genet. 2020 Jan 1;29(1):20-30. doi: 10.1093/hmg/ddz214.
Impact factor:
Publication type: Paper in international publication
Authors: Alexander, Ian E; Brull, Astrid; Clayton, Joshua S; Dilworth, Kimberley L; Goullee, Hayley; Laing, Nigel G; Lisowski, Leszek; McNamara, Elyshia L; Nowak, Kristen J; Pinos, Tomas et al.
DOI: 10.1093/hmg/ddz214

Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.

PMID: 30848931
Journal: FASEB JOURNAL
Year: 2019
Reference: FASEB J. 2019 Jun;33(6):7168-7179. doi: 10.1096/fj.201801591R. Epub 2019 Mar 8.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, Josu; Blazquez-Bermejo, Cora; Cabrera-Perez, Raquel; Camara, Yolanda; Carreno-Gago, Lidia; de la Cruz, Xavier; Dominguez-Gonzalez, Cristina; Garcia-Arumi, Elena; Lombes, Anne; Marti, Ramon et al.
DOI: 10.1096/fj.201801591R

Adipocyte MTERF4 regulates non-shivering adaptive thermogenesis and sympathetic-dependent glucose homeostasis.

PMID: 30690068
Journal: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Year: 2019
Reference: Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1298-1312. doi: 10.1016/j.bbadis.2019.01.025. Epub 2019 Jan 26.
Impact factor:
Publication type: Paper in international publication
Authors: Beiroa, Daniel; Camara, Yolanda; Castillo, Anna; Marti, Ramon; Martin, Edgar; Morcillo, Miguel A; Nogueiras, Ruben; Oteo, Marta; Pardo, Rosario; Pedriza, Ines et al.
DOI: 10.1016/j.bbadis.2019.01.025

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: 4.959
Publication type: Paper in international publication
Authors: Quer, Josep, Casis-Saez, Ernesto, Rodriguez-Frias, Francisco, Esteban-Mur, Rafael, Buti-Ferret, Maria, Ferrer-Costa, Roser, Lopez-Martinez, Rosa, Arias-Garcia, Andrea, Rodriguez-Algarra, Francisco, Castellote-Belles, Laura 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: 6.68
Publication type: Paper in international publication
Authors: Molina-Granada, David, Vila-Julia, Ferran, Jimenez-Heis, Daniel, Zhou, Xiaoshan, Torres-Torronteras, Javier, Karlsson, Anna, Marti, Ramon, Camara, Yolanda, Blazquez-Bermejo, Cora et al.
DOI: 10.1016/j.ebiom.2019.07.042

Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE.

PMID: 29284302
Journal: HUMAN GENE THERAPY
Year: 2018
Reference: Hum Gene Ther. 2018 Jun;29(6):708-718. doi: 10.1089/hum.2017.133. Epub 2018 Feb 26.
Impact factor:
Publication type: Paper in international publication
Authors: Cabrera-Perez, Raquel; Camara, Yolanda; Hirano, Michio; Marti, Ramon; Torres-Torronteras, Javier; Vila-Julia, Ferran; Viscomi, Carlo; Zeviani, Massimo et al.
DOI: 10.1089/hum.2017.133

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

PMID: 29174468
Journal: NEUROMUSCULAR DISORDERS
Year: 2018
Reference: Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31.
Impact factor:
Publication type: Paper in international publication
Authors: Ariatti, Alessandra; Carnicer-Caceres, Clara; Carreno-Gago, Lidia; de Luna, Noemi; Devigili, Grazia; Garcia-Arumi, Elena; Pinos, Tomas; Russignan, Anna; Scarpelli, Mauro; Tonin, Paola et al.
DOI: 10.1016/j.nmd.2017.10.006

Clinical utility gene card for McArdle disease.

PMID: 29371640
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2018
Reference: Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.
Impact factor:
Publication type: Paper in international publication
Authors: Brull, Astrid; Cabrera, Macarena; Davis, Mark; Nowak, Kristen J; Pinos, Tomas; Taylor, Rhonda L; Turner, Emma et al.
DOI: 10.1038/s41431-017-0070-6

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

PMID: 29174367
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2018
Reference: Mol Genet Metab. 2018 Jan;123(1):21-27. doi: 10.1016/j.ymgme.2017.11.006. Epub 2017 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Brull, Astrid; Krag, Thomas O; Nielsen, Tue L; Pinos, Tomas; Vissing, John et al.
DOI: 10.1016/j.ymgme.2017.11.006

Discordant Genotypic Sex and Phenotype Variations in Two Spanish Siblings with 17alpha-Hydroxylase/17,20-Lyase Deficiency Carrying the Most Prevalent Mutated CYP17A1 Alleles of Brazilian Patients.

PMID: 28376482
Journal: Sexual Development
Year: 2017
Reference: Sex Dev. 2017;11(2):70-77. doi: 10.1159/000468160. Epub 2017 Apr 4.
Impact factor:
Publication type: Paper in international publication
Authors: Arnhold, Ivo J P; Audi, Laura; Bilharinho Mendonca, Berenice; Carrascosa, Antonio; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Garcia-Garcia, Emilio; Gonzalez-Cejudo, Carmen; Guerra-Junior, Gil; Mangas-Cruz, Miguel-Angel et al.
DOI: 10.1159/000468160

SAMHD1 is active in cycling cells permissive to HIV-1 infection.

PMID: 28359840
Journal: ANTIVIRAL RESEARCH
Year: 2017
Reference: Antiviral Res. 2017 Jun;142:123-135. doi: 10.1016/j.antiviral.2017.03.019. Epub 2017 Mar 28.
Impact factor:
Publication type: Paper in international publication
Authors: Badia, Roger; Ballana, Ester; Clotet, Bonaventura; Este, Jose A; Marti, Ramon; Menendez-Arias, Luis; Pauls, Eduardo; Pujantell, Maria; Riveira-Munoz, Eva; Ruzo, Albert et al.
DOI: 10.1016/j.antiviral.2017.03.019

Role of Parp Activity in Lung Cancer-induced Cachexia: Effects on Muscle Oxidative Stress, Proteolysis, Anabolic Markers and Phenotype.

PMID: 28177129
Journal: JOURNAL OF CELLULAR PHYSIOLOGY
Year: 2017
Reference: J Cell Physiol. 2017 Dec;232(12):3744-3761. doi: 10.1002/jcp.25851. Epub 2017 Apr 27.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Barreiro, Esther; Chacon-Cabrera, Alba; Fermoselle, Clara; Garcia-Arumi, Elena; Langohr, Klaus; Mateu-Jimenez, Merce; Yelamos, Jose et al.
DOI: 10.1002/jcp.25851

The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells.

PMID: 27541004
Journal: PLoS Pathogens
Year: 2016
Reference: PLoS Pathog. 2016 Aug 19;12(8):e1005829. doi: 10.1371/journal.ppat.1005829. eCollection 2016 Aug.
Impact factor:
Publication type: Paper in international publication
Authors: Ampudia, Rosa M; Badia, Roger; Ballana, Ester; Clotet, Bonaventura; Este, Jose A; Marti, Ramon; Puig, Teresa; Pujantell, Maria; Riveira-Munoz, Eva; Torres-Torronteras, Javier et al.
DOI: 10.1371/journal.ppat.1005829

Polyphosphate is involved in cell cycle progression and genomic stability in Saccharomyces cerevisiae.

PMID: 27072996
Journal: MOLECULAR MICROBIOLOGY
Year: 2016
Reference: Mol Microbiol. 2016 Aug;101(3):367-80. doi: 10.1111/mmi.13396. Epub 2016 May 3.
Impact factor:
Publication type: Paper in international publication
Authors: Arino, Joaquin; Bru, Samuel; Canadell, David; Clotet, Josep; Hernandez-Ortega, Sara; Jimenez, Javier; Marti, Ramon; Martinez-Lainez, Joan Marc; Quandt, Eva; Sharma, Sushma et al.
DOI: 10.1111/mmi.13396

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

PMID: 27031745
Journal: MEDICINE AND SCIENCE IN SPORTS AND EXERCISE
Year: 2016
Reference: Med Sci Sports Exerc. 2016 Aug;48(8):1448-58. doi: 10.1249/MSS.0000000000000931.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Fiuza-Luces, Carmen; Garcia-Consuegra, Ines; Lucia, Alejandro; Martin, Miguel Angel; Moran, Maria; Nogales-Gadea, Gisela; Pareja-Galeano, Helios; Perez, Laura M et al.
DOI: 10.1249/MSS.0000000000000931

Long-term restoration of thymidine phosphorylase function and nucleoside homeostasis using hematopoietic gene therapy in a murine model of MNGIE.

PMID: 27004974
Journal: HUMAN GENE THERAPY
Year: 2016
Reference: Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160. Epub 2016 May 4.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Barba, Ignasi; Barquinero, Jordi; Cabrera-Perez, Raquel; Camara, Yolanda; Costa, Carme; de Luna, Noemi; Hirano, Michio; Marti, Ramon; Torres-Torronteras, Javier et al.
DOI: 10.1089/hum.2015.160

Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

PMID: 25762569
Journal: DIS MODEL MECH
Year: 2015
Reference: Dis Model Mech. 2015 May 1;8(5):467-72. doi: 10.1242/dmm.020230. Epub 2015 Mar 11.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Brull, Astrid; de Luna, Noemi; Guiu, Josep Maria; Lucia, Alejandro; Marti, Ramon; Martin, Miguel Angel; Pinos, Tomas et al.
DOI: 10.1242/dmm.020230

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

PMID: 25914343
Journal: HUM MUTAT
Year: 2015
Reference: Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Epub 2015 Jun 3.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arenas, Joaquin; Brull, Astrid; de Luna, Noemi; Lucia, Alejandro; Martin, Miguel A; Nogales-Gadea, Gisela; Pinos, Tomas; Santalla, Alfredo et al.
DOI: 10.1002/humu.22806

Severe TK2 enzyme activity deficiency in patients with mild forms of myopathy.

PMID: 25948719
Journal: NEUROLOGY
Year: 2015
Reference: Neurology. 2015 Jun 2;84(22):2286-8. doi: 10.1212/WNL.0000000000001644. Epub 2015 May 6.
Impact factor:
Publication type: Paper in international publication
Authors: Blazquez, Alberto; Bornstein, Belen; Camara, Yolanda; Cancho, Esther; Carreno-Gago, Lidia; Delmiro, Aitor; Diaz-Manera, Jorge; Gallardo, Eduard; Garcia-Arumi, Elena; Garrabou, Gloria et al.
DOI: 10.1212/WNL.0000000000001644

The pathogenomics of McArdle disease-genes, enzymes, models, and therapeutic implications.

PMID: 25053163
Journal: J INHERIT METAB DIS
Year: 2015
Reference: J Inherit Metab Dis. 2015 Mar;38(2):221-30. doi: 10.1007/s10545-014-9743-2. Epub 2014 Jul 23.
Impact factor:
Publication type: Paper in international publication
Authors: Brull, Astrid; de Luna, Noemi; Lucia, Alejandro; Nogales-Gadea, Gisela; Pinos, Tomas; Santalla, Alfredo et al.
DOI: 10.1007/s10545-014-9743-2

PYGM expression analysis in white blood cells: A complementary tool for diagnosing McArdle disease?

PMID: 25240406
Journal: NEUROMUSCULAR DISORDERS
Year: 2014
Reference: Neuromuscul Disord. 2014 Dec;24(12):1079-86. doi: 10.1016/j.nmd.2014.08.002. Epub 2014 Aug 21.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Brull, Astrid; de Luna, Noemi; Garatachea, Nuria; Lucia, Alejandro; Marti, Ramon; Pinos, Tomas; Santalla, Alfredo et al.
DOI: 10.1016/j.nmd.2014.08.002

Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.

PMID: 24797663
Journal: PLoS One
Year: 2014
Reference: PLoS One. 2014 May 5;9(5):e95073. doi: 10.1371/journal.pone.0095073. eCollection 2014.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Arnalich, Francisco; Bosca, Lisardo; Cubillos-Zapata, Carolina; de Diego, Rebeca Perez; Esteban-Burgos, Laura; Fernandez-Ruiz, Irene; Fernandez-Velasco, Maria; Garcia-Arumi, Elena; Hernandez-Jimenez, Enrique et al.
DOI: 10.1371/journal.pone.0095073

The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts.

PMID: 24163049
Journal: AGE
Year: 2014
Reference: Age (Dordr). 2014 Apr;36(2):933-43. doi: 10.1007/s11357-013-9593-0. Epub 2013 Oct 28.
Impact factor:
Publication type: Paper in international publication
Authors: Abe, Yukiko; Andreu, Antoni L; Arai, Yasumichi; Camara, Yolanda; Fuku, Noriyuki; Garatachea, Nuria; Garcia-Dorado, David; Hinohara, Kunihiko; Hirose, Nobuyoshi; Kimura, Akinori et al.
DOI: 10.1007/s11357-013-9593-0

Darunavir and telaprevir drug interaction: total and unbound plasma concentrations in HIV/HCV-coinfected patients with cirrhosis.

PMID: 24363317
Journal: JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
Year: 2014
Reference: J Antimicrob Chemother. 2014 May;69(5):1434-6. doi: 10.1093/jac/dkt509. Epub 2013 Dec 19.
Impact factor:
Publication type: Editorail in international publication
Authors: Crespo, Manuel; Curran, Adrian; Guiu, Josep Maria; Ribera, Esteban et al.
DOI: 10.1093/jac/dkt509

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

PMID: 23375258
Journal: NEUROMUSCULAR DISORDERS
Year: 2013
Reference: Neuromuscul Disord. 2013 Apr;23(4):330-6. doi: 10.1016/j.nmd.2013.01.001. Epub 2013 Jan 31.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Camara, Yolanda; Gallardo, Eduard; Garcia-Arumi, Elena; Hernandez-Losa, Javier; Martinez-Vea, Albert; Melia, Maria Jesus; Ortiz, Nicolau; Pinos, Tomas; Raventos-Estelle, Antoni et al.
DOI: 10.1016/j.nmd.2013.01.001

Association of the K153R polymorphism in the myostatin gene and extreme longevity.

PMID: 23354683
Journal: AGE
Year: 2013
Reference: Age (Dordr). 2013 Dec;35(6):2445-54. doi: 10.1007/s11357-013-9513-3. Epub 2013 Jan 25.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antoni L; Camara, Yolanda; Emanuele, Enzo; Fiuza-Luces, Carmen; Garatachea, Nuria; Lucia, Alejandro; Pinos, Tomas; Ricevuti, Giovanni; Rodriguez-Romo, Gabriel; Santiago-Dorrego, Catalina et al.
DOI: 10.1007/s11357-013-9513-3

Neuromuscular disorders of glycogen metabolism.

PMID: 23335027
Journal: Current Neurology and Neuroscience Reports
Year: 2013
Reference: Curr Neurol Neurosci Rep. 2013 Mar;13(3):333. doi: 10.1007/s11910-012-0333-0.
Impact factor:
Publication type: Review in international publication
Authors: Andreu, Antoni L; Bruno, Claudio; Gazzerro, Elisabetta et al.
DOI: 10.1007/s11910-012-0333-0

Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphorylase Activity.

PMID: 22215544
Journal: Methods in molecular biology
Year: 2012
Reference: Methods Mol Biol. 2012;837:121-33.
Impact factor:
Publication type: Paper in international publication
Authors: Hirano, Michio; Lopez, Luis C; Marti, Ramon et al.
DOI: 10.1007/978-1-61779-504-6_8

Measurement of Mitochondrial dNTP Pools.

PMID: 22215545
Journal: Methods in molecular biology
Year: 2012
Reference: Methods Mol Biol. 2012;837:135-48.
Impact factor:
Publication type: Letter or abstract
Authors: Dorado, Beatriz; Hirano, Michio; Marti, Ramon et al.
DOI: 10.1007/978-1-61779-504-6_9

Chronic psychosocial stress induces reversible mitochondrial damage and corticotropin-releasing factor receptor type-1 upregulation in the rat intestine and IBS-like gut dysfunction.

PMID: 21641728
Journal: PSYCHONEUROENDOCRINOLOGY
Year: 2012
Reference: Psychoneuroendocrinology. 2012 Jan;37(1):65-77. Epub 2011 Jun 8.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.psyneuen.2011.05.005

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

PMID: 21451581
Journal: GENE THERAPY
Year: 2011
Reference: Gene Ther. 2011 Aug;18(8):795-806. doi: 10.1038/gt.2011.24. Epub 2011 Mar 31.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; et al.
DOI: 10.1038/gt.2011.24

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.

PMID: 21412940
Journal: HUMAN MUTATION
Year: 2011
Reference: Hum Mutat. 2011 Apr;32(4):E2061-8. doi: 10.1002/humu.21447. Epub 2011 Jan 18.
Impact factor:
Publication type: Paper in international publication
Authors: Accarino, Anna; Andreu, Antoni L; Martii, Ramon; Pinos, Tomas; Pintos-Morell, Guillem; Rodriguez-Palmero, Agusti; Torres-Torronteras, Javier et al.
DOI: 10.1002/humu.21447

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.

PMID: 21382338
Journal: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Year: 2011
Reference: Biochem Biophys Res Commun. 2011 Apr 8;407(2):333-8. Epub 2011 Mar 5.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.bbrc.2011.03.018

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

PMID: 20813205
Journal: MITOCHONDRION
Year: 2011
Reference: Mitochondrion. 2011 Jan;11(1):228-33. Epub 2010 Sep 8.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.mito.2010.08.008

Quantification of mitochondrial DNA copy number: pre-analytical factors.

PMID: 19272467
Journal: MITOCHONDRION
Year: 2009
Reference: Mitochondrion. 2009 Jul;9(4):242-6.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, Antonio L; Garcia-Arumi, Elena; Marti, Ramon; Martinez, Ramiro et al.
DOI: 10.1016/j.mito.2009.02.006

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

PMID: 19251976
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2009
Reference: J Med Genet. 2009 Mar;46(3):198-202.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A L; Arenas, J; Bautista, J; Cabello, A; Garcia-Consuegra, I; Jimenez, S; Lucia, A; Martin, M A; Nogales-Gadea, G; Rubio, J C et al.
DOI: 10.1136/jmg.2008.059469

Unchanged thymidine triphosphate pools and thymidine metabolism in two lines of thymidine kinase 2-mutated fibroblasts.

PMID: 19154348
Journal: FEBS Journal
Year: 2009
Reference: FEBS J. 2009 Feb;276(4):1104-13.
Impact factor:
Publication type: Paper in international publication
Authors: Bianchi, Vera; Frangini, Miriam; Franzolin, Elisa; Lara, Mari-Carmen; Marti, Ramon; Rampazzo, Chiara; Vila, Maya R et al.
DOI: 10.1111/j.1742-4658.2008.06853.x

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.

PMID: 19124644
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2009
Reference: J Med Genet. 2009 Jan;46(1):64-7.
Impact factor:
Publication type: Paper in international publication
Authors: Andreu, A L; Castano-Perez, M D; Herrera, A; Herrero-Martin, M D; Lopez-Gallardo, E; Lopez-Perez, M J; Martinez-Romero, I; Montoya, J; Ruiz-Pesini, E; Solano, A et al.
DOI: 10.1136/jmg.2008.060616

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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.