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Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice.


ABSTRACT: Genetic modifier screens provide a useful tool, in diverse organisms from Drosophila to C. elegans and mice, for recovering new genes of interest that may reduce or enhance a phenotype of interest. This study reports a modifier screen, based on N-ethyl-N-nitrosourea (ENU) mutagenesis and outcrossing, designed to increase understanding of the normal function of murine α-synuclein (Snca). Human SNCA was the first gene linked to familial Parkinson's disease. Since the discovery of the genetic link of SNCA to Parkinson's nearly three decades ago, numerous studies have investigated the normal function of SNCA protein with divergent roles associated with different cellular compartments. Understanding of the normal function of murine Snca is complicated by the f

SUBMITTER: Casey M 

PROVIDER: S-EPMC10680713 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature