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Knecht, Erwin
Fundación Centro de Investigación Príncipe Felipe C/ Eduardo Primo Yúfera 3 46013 Valencia
(+34) 96 328 96 81- Ext: 2007 / 2008 (Carmen Aguado)
[email protected]
group website
GROUP MEMBERS
Staff members: Aguado Muñoz, Carmen
Associated members: Armengod González, María Eugenia
Main lines of research
• Functional characteristics of CLN2 and CLN3, two variants of neuronal ceroid lipofuscinosis.
• Molecular basis of Lafora disease.
• Function of CERKL, a protein that causes retinitis pigmentosa.
• Role of mitochondrial tRNAs modification enzymes in MELAS and other OXPHOS syndromes.
• Alterations in intracellular protein degradation in X-linked adrenoleukodistrophy.
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PROGRAMMES
Genetic Medicine
