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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

Research technician
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

Research technician
Neuromuscular and Mitochondrial Pathology
Read more
Juan Luis Restrepo Vera

Juan Luis Restrepo Vera

Predoctoral researcher
Neuromuscular and Mitochondrial Pathology
Read more
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

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 - 31/12/2024

Ayudas para la formación de profesorado universitario (FPU) 2021

IP: Ramon Martí Seves
Collaborators: Bernat García Adán
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

Investigación de la modulación de receptores adenosinérgicos como posibles nuevos tratamientos para la fibrosis quística

IP: Elena García Arumí
Collaborators: Paula Barranco Bartolomé, Miriam Izquierdo Sans
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 33960
Reference: AGAUR/DI/2020_2/BARRANCO
Duration: 01/09/2020 - 31/08/2024

Publications

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

Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.

PMID: 38108358
Journal: Journal of neuromuscular diseases
Year: 2023
Reference: J Neuromuscul Dis. 2023 Dec 15. doi: 10.3233/JND-230027.
Impact factor:
Publication type: Paper in international publication
Authors: Bhai, Salman; Bloemen, Bart; Coppers, Jacqueline; Cup, Edith; Groothuis, Jan T; Karazi, Walaa; Lokken, Nicoline; Maas, Daphne; Marti Seves, Ramon; Pinos, Tomas et al.
DOI: 10.3233/JND-230027

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 Jun 25:e2200125. doi: 10.1002/mnfr.202200125.
Impact factor: 5.82
Publication type: Paper in international publication
Authors: Hernandez, Cristina; Simo, Rafael; Selva, David M; Torres-Torronteras, Javier; Ramos-Perez, Lorena; Brianso-Llort, Laura; Simo-Servat, Olga et al.
DOI: 10.1002/mnfr.202200125

ERM Complex, a Therapeutic Target for Vascular Leakage Induced by Diabetes.

PMID: 34042029
Journal: CURRENT MEDICINAL CHEMISTRY
Year: 2022
Reference: Curr Med Chem. 2022;29(12):2189-2199. doi: 10.2174/0929867328666210526114417.
Impact factor: 4.53
Publication type: Paper in international publication
Authors: Simo-Servat, Olga, Ramos, Hugo, Bogdanov, Patricia, Garcia-Ramirez, Marta, Huerta, Jordi, Hernandez, Cristina, Simo, Rafael et al.
DOI: 10.2174/0929867328666210526114417

Minimum Effective Dose of DPP-4 Inhibitors for Treating Early Stages of Diabetic Retinopathy in an Experimental Model.

PMID: 35203674
Journal: Biomedicines
Year: 2022
Reference: Biomedicines. 2022 Feb 16;10(2). pii: biomedicines10020465. doi: 10.3390/biomedicines10020465.
Impact factor: 6.081
Publication type: Paper in international publication
Authors: Hernandez, Cristina, Simo, Rafael, Huerta, Jordi, Bogdanov, Patricia, Ramos, Hugo, Valeri, Marta, Deas-Just, Anna et al.
DOI: 10.3390/biomedicines10020465

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects.

PMID: 33980861
Journal: npj Breast Cancer
Year: 2021
Reference: NPJ Breast Cancer. 2021 May 12;7(1):52. doi: 10.1038/s41523-021-00255-3.
Impact factor: 6.923
Publication type: Paper in international publication
Authors: Li, Na, Zethoven, Magnus, McInerny, Simone, Devereux, Lisa, Huang, Yu-Kuan, Thio, Niko, Cheasley, Dane, Gutierrez-Enriquez, Sara, Moles-Fernandez, Alejandro, Diez, Orland et al.
DOI: 10.1038/s41523-021-00255-3

Blog

News

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

Job offers

Research Technician..
Start date:
07/02/2022
End date:
21/02/2022
Document: Download
Research technician. Mitochondrial and Neuromuscular Pathology Research Group.
Start date:
10/03/2021
End date:
24/03/2021
Document: Download
Research Technician-FPII
Start date:
18/02/2021
End date:
07/05/2021
Document: Download

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