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New mutation in the desmoplakin gene leads to ACM
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New mutation in the desmoplakin gene leads to ACM

HUBRECHT INSTITUTE IMAGE: HEART MUSCLE CELLS WITHOUT (WILDTYPE) OR WITH (MUTANT) THE NEWLY DISCOVERED MUTATION. PROTEINS THAT ARE PRESENT IN HEART MUSCLE CELLS SPECIFICALLY (GREEN), DESMOSOMAL PROTEINS (RED) AND CELL NUCLEI (BLUE) ARE VISIBLE. CREDIT: JANTINE MONSHOUWER-KLOOTS, COPYRIGHT HUBRECHT INSTITUTE Researchers from the group of Eva van Rooij in collaboration with the UMC Utrecht identified a...

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A new mutation behind synucleinopathies

ECOLE POLYTECHNIQUE FÉDÉRALE DE LAUSANNE Parkinson’s disease and Lewy body dementia belong to a family of neurodegenerative disorders called synucleinopathies because they are caused by the pathological accumulation of protein alpha-synuclein into structures called Lewy bodies and Lewy neurites in the brain. In a healthy brain, alpha-synuclein is found in synapses as distinct proteins called...