Lorena de Mena

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Alpha-synuclein gene (SNCA) polymorphisms have been associated with the common sporadic form of Parkinson’s disease (PD). We searched for DNA variants at the SNCA 3′ UTR through single strand conformation analysis and direct sequencing in a cohort of Spanish PD patients and controls. We have genotyped the rs356165 SNCA 3′ UTR polymorphism in a total of(More)
The pathological hallmark of Parkinson’s disease (PD) is the loss of dopaminergic neurons and the presence of Lewy bodies and Lewy neurites in the substantia nigra pars compacta, corpus striatum and brain cortex [1]. PD is a complex disease caused by the interaction of genetic/ inherited and environmental/acquired risk factors [2]. MicroRNAs (miRNAs) are(More)
Mortalin is a mitochondrial chaperone of the heat shock protein 70 family. Mortalin plays a central role in mitochondrial biogenesis through its capacity to direct the import of nuclear-encoded proteins into the mitochondria. As mitochondrial dysfunction has been involved in Parkinson’s disease (PD), changes in mortalin function and expression could(More)
PRKN mutations have been linked to Parkinson’s disease (PD). Most of the mutational screenings have focused on the coding exons. The 3′ untranslated region (UTR) could also harbor functionally relevant nucleotide changes. We performed a mutational screening of PRKN in a cohort of early-onset PD patients (n = 235) from Spain. We found 16 mutations (five(More)
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