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Research Groups
Group U721
Programme: Genetic Medicine Lead Researcher: Knecht, Erwin
Group members
STAFF MEMBERS: Aguado Muñoz, Carmen.
ASSOCIATED MEMBERS: Armengod González, María Eugenia.
Main lines of research
• FunctionalcharacteristicsofCLN2andCLN3,two variants of neuronal ceroid lipofuscinosis.
• MolecularbasisofLaforadisease.
• FunctionofCERKL,aproteinthatcausesretinitis pigmentosa.
• Role of mitochondrial tRNAs modification en- zymes in MELAS and other OXPHOS syndromes.
• Alterationsinintracellularproteindegradationin X-linked adrenoleukodistrophy.
80 I Annual report 2015 I CIBERER
