Genetic background influences LRRK2-mediated Rab phosphorylation in the rat brain
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DOI: 10.1016/j.brainres.2021.147372
Abstract: Pathogenic missense mutations in the leucine-rich repeat kinase 2 gene, encoding LRRK2, results in the upregulation of Rab10 and Rab12 phosphorylation in different cells and tissues. Here, we evaluate levels of the LRRK2 kinase substrates… read more here.
Keywords: ps106 rab12; rab10 ps106; pt73 rab10; rab12 ... See more keywords
Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias
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DOI: 10.3390/genes8100276
Abstract: Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other… read more here.
Keywords: dystonia patients; functional characterization; rab12 variants; rab12 ... See more keywords