Article
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Acta neuropathologica - 1 Jun 2020
Martin Shaun, Smolders Stefanie, Van den Haute Chris, Heeman Bavo, van Veen Sarah, Crosiers David, Beletchi Igor, Verstraeten Aline, Gossye Helena, Gelders Géraldine, Pals Philippe, Hamouda Norin Nabil, Engelborghs Sebastiaan, Martin Jean-Jacques, Eggermont Jan, De Deyn Peter Paul, Cras Patrick, Baekelandt Veerle, Vangheluwe Peter, Van Broeckhoven Christine
Abstract excerpt
Parkinson's disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta and the occurrence of α-synuclein-positive Lewy bodies in surviving neurons. Here, we performed whole exome sequencing in 52 early-onset PD patients and identified 3 carriers of compound heterozygous...
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