Page 114 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U723
Mitochondrial Medicine

Group Members
Lead Researcher
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STAFF MEMBERS
Martn Casanueva, Miguel A.

Blzquez Encinar, Alberto
Jimnez Garca, Sara
Contact:
ñASSOCIATED MEMBERS
Servicio Madrileo de la Salud. I+12.
Atencia Cibreiro, Gabriela
Lab. Enfermedades Raras, Mitocondriales y Neuromusculares Cabello Fernndez, Ana
Hospital Univ. 12 de Octubre. Edif. CAA; Pta. 6a; Bl. D (laboratorios). Madrid.
Tels: (+34) 91 779 28 75 / 91 779 26 04. de la Torre, Paz

E.mail: [email protected]; [email protected] Del Hoyo Gordillo, Pilar
Websites: http://www.imas12.es; Delmiro Magdalena, Aitor

http://www.madrid.org/cs/Satellite?pagename=Hospital12Octubre/Page/H12O_home
Domnguez Gonzlez, Cristina
Esteban Prez, Jess

Garca Redondo, Alberto Main lines of research
Garca Silva, Mara Teresa

Garca-Consuegra Galiana, Ins • Mitochondrial diseases and exercise intolerance: Development and standardi-

Marn Buera, Lorena zation of biochemical and genetic/genomic methods to improve the biochemi-
Martnez Azorn, Francisco cal and genetic diagnosis. Identification of new disease-causing genes and

Morn Bermejo, Mara novel mutations.
Rivera Gorrin, Henry
• Biochemical and molecular basis of mitochondrial respiratory chain complex I
Rubio Muoz, Juan Carlos and complex III deficiencies.
Rufin Vzquez, Laura
• Assessment of OXPHOS complexes assembly by BN_PAGE and its clinical
Ugalde Bilbao, Cristina
translation
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• Neuromuscular diseases research lines: Metabolic Exercise Intolerance: i) Pa- 20
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tient’s registries, natural history and genotype-phenotype correlations of type R
PO
V glycogenosis (GSDV- McArdle disease), ii) Amyotrophic Lateral Sclerosis: E
identifications of novel mutations, evaluation of pathophysiology of ALS using L R
A
cell and animal models, and patient’s clinical trials.
NU
• Mitochondrial dynamics and autophagy: i) Role of mitochondrial dynamics and N
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autophagy (and mitophagy) in cell models of mitochondrial disorders; ii) mi- /
ER
tochondrial disturbances and autophagy pathway evaluation in a mouse model ER
of graft vs host disease.
B
CI
• Oxygen consumption as in vivo marker of mitochondrial disorders.

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• Identification and validation of biomarkers in mitochondrial disorders.