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RESEARCH GROUPS
Group U743
Programme: Mitochondrial and Neuromuscular Medicine
Lead Researcher: Satrústegui, Jorgina Group Members
STAFF MEMBERS: Contreras Balsa, Laura CONTRATADOS A CARGO DE PROYECTO: Martínez Valero, Paula ASSOCIATED MEMBERS: De Arco Martínez, Araceli
Main lines of research
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Global Cerebral Hipomyelination . Pathogenic mechanisms of the disease caused by mutations in ara- lar/AGC1 studied with the use of AGC1 KO mice . Effects on myelination, formation of brain N-acetyl- aspartate, glial glutamate and glutamine synthesis . Possible implication of aralar/AGC1 inl diseases characterized by low levels of brain N-acetylaspartate .
Charcot-Marie-Tooth disease . Alterations in calcium signaling mechanisms, particularly calcium signa- ling to mitochondria in forms of CMT caused by mutations in GDAP1 and MFN2 .
Mitochondrial pathology: 1 . Possible implication of SCaMCs in mitochondrial diseases characterized by deletions in DNAmit deletions and ophthalmoplegia, 2) Possible implication of mutations in SCa- MC-3 in human disease associated with deletions or depletion of liver, but not muscle, DNAmit .
Regulation of calcium signaling to mitochondria and calcium handling by mitochondria . Role of the calcium uniporter and calcium regulated mitochondrial carriers Aralar/AGC1 and SCaMCs . Role of these carriers in deregulation of mitochondrial calcium . Involvement in human pathology .
Tissue-specific mechanisms of oxidative phosphorylation regulation . Mitochondrial retrograde signaling to nuclei as a possible target in mitochondrial pathologies .
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CIBERER » Annual report 2014