Article
Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations.
Cell death & disease - 7 Mar 2018
Fasano Dominga, Parisi Silvia, Pierantoni Giovanna Maria, De Rosa Anna, Picillo Marina, Amodio Giuseppina, Pellecchia Maria Teresa, Barone Paolo, Moltedo Ornella, Bonifati Vincenzo, De Michele Giuseppe, Nitsch Lucio, Remondelli Paolo, Criscuolo Chiara, Paladino Simona
Abstract excerpt
Recently, a new form of autosomal recessive early-onset parkinsonism (PARK20), due to mutations in the gene encoding the phosphoinositide phosphatase, Synaptojanin 1 (Synj1), has been reported. Several genes responsible for hereditary forms of Parkinson's disease are implicated in distinct steps of the endolysosomal pathway. However, the nature and the degree of endocytic membrane trafficking impairment in...
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