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Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations.

Neurobiology of aging - 1 May 2018

González-Casacuberta Ingrid, Morén Constanza, Juárez-Flores Diana-Luz, Esteve-Codina Anna, Sierra Cristina, Catalán-García Marc, Guitart-Mampel Mariona, Tobías Ester, Milisenda José César, Pont-Sunyer Claustre, Martí María José, Cardellach Francesc, Tolosa Eduard, Artuch Rafael, Ezquerra Mario, Fernández-Santiago Rubén, Garrabou Glòria

Abstract excerpt

Mutations in the parkin gene (PRKN) are the most common cause of autosomal-recessive juvenile Parkinson's disease (PD). PRKN encodes an E3 ubiquitin ligase that is involved in multiple regulatory functions including proteasomal-mediated protein turnover, mitochondrial function, mitophagy, and cell survival. However, the precise molecular events mediated by PRKN mutations in PRKN-associated PD (PRKN-PD) remain...

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Identifiers

PMID: 29501959
DOI: 10.1016/j.neurobiolaging.2018.01.021

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PRKN

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