Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission
نویسندگان
چکیده
منابع مشابه
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Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) are a common genetic cause of Parkinson's disease (PD). The importance of the R1441 residue in the pathogenesis is highlighted by the identification of three distinct missense mutations. To investigate the pathogenic mechanism underlying LRRK2 dysfunction, we generated a knockin (KI) mouse in which the R1441C mutation is exp...
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ژورنال
عنوان ژورنال: Journal of Neurochemistry
سال: 2014
ISSN: 0022-3042
DOI: 10.1111/jnc.12638