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Alteration of endosomal trafficking is associated with early-onset parkinsonism caused by SYNJ1 mutations

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841278/
https://www.ncbi.nlm.nih.gov/pubmed/29515184
http://dx.doi.org/10.1038/s41419-018-0410-7