Article
LRRK2 Expression Is Deregulated in Fibroblasts and Neurons from Parkinson Patients with Mutations in PINK1.
Molecular neurobiology - 1 Jan 2018
Azkona Garikoitz, López de Maturana Rakel, Del Rio Patricia, Sousa Amaya, Vazquez Nerea, Zubiarrain Amaia, Jimenez-Blasco Daniel, Bolaños Juan P, Morales Blas, Auburger Georg, Arbelo José Matias, Sánchez-Pernaute Rosario
Abstract excerpt
Mutations in PINK1 (PARK6), a serine/threonine kinase involved in mitochondrial homeostasis, are associated with early onset Parkinson's disease. Fibroblasts from Parkinson's disease patients with compound heterozygous mutations in exon 7 (c.1488 + 1G > A; c.1252_1488del) showed no apparent signs of mitochondrial impairment. To elucidate changes primarily caused by lack of functional PINK1, we over-expressed...
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