Article
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils.
Acta neuropathologica - 1 Sept 2021
Fan Ying, Nirujogi Raja S, Garrido Alicia, Ruiz-Martínez Javier, Bergareche-Yarza Alberto, Mondragón-Rezola Elisabet, Vinagre-Aragón Ana, Croitoru Ioana, Gorostidi Pagola Ana, Paternain Markinez Laura, Alcalay Roy, Hickman Richard A, Düring Jonas, Gomes Sara, Pratuseviciute Neringa, Padmanabhan Shalini, Valldeoriola Francesc, Pérez Sisqués Leticia, Malagelada Cristina, Ximelis Teresa, Molina Porcel Laura, Martí Maria José, Tolosa Eduardo, Alessi Dario R, Sammler Esther M
Abstract excerpt
Heterozygous gain-of-kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause 1-2% of all cases of Parkinson's disease (PD) albeit with incomplete and age-dependent penetrance. All pathogenic LRRK2 mutations reside within the two catalytic domains of LRRK2-either in its kinase domai...
Topics
- Adult
- Aged
- Aged, 80 and over
- Autopsy
- Biomarkers
- Female
- Heterozygote
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
