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RESEARCH GROUPS
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PROGRAMA:
PROGRAMME:
Gruouppo U0701
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Mitochondrial Medicine
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Group Members
Lead Researcher
Mart Seves, Ramon
STAFF MEMBERS
Cmara Navarro, Yolanda
Pinos Figueras, Toms
Contact:
ASSOCIATED MEMBERS
Vall d’Hebron Institut de Recerca (VHIR)
Cont: Noemi Baruch; Maria Jesús Meliá Andreu, Antoni L.
Carreo Gago, Lidia
Pg Vall d’Hebron, 119. 08035 Barcelona · Phone: (+34) 93 489 40 54
E.mail: [email protected] / [email protected] Cuadros Arasa, Marc
Garca-Arum, Elena
Website: www.vhir.org
Gonzlez Vioque, Emiliano
Guiu Segura, Josep Mara
Main lines of research
Martnez Estfano, Ramiro
Meli Grimal, Ma Jess • Mechanisms of pathogenicity of mtDNA structural gene mutations.
Torres Torronteras, Javier
• Genetic and biochemical study of mitochondrial DNA depletion syndromes:
MNGIE, depletion due to TK2 or dGK deficiency and other. Implications in
the control of the nucleotide pool.
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• Therapeutic approaches for MNGIE and other mitochondrial DNA depletion 20
syndromes.
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• McArdle disease: study of pathomechanisms and potential therapeutic ap- PO
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proaches.
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• Characterization and study of the pathomechanisms involved in the limb- NU
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girdle muscular dystrophhy caused by mutations in the TNPO3 gene (LG- A
MD1F).
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