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R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils

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 domain (...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357670/
https://www.ncbi.nlm.nih.gov/pubmed/34125248
http://dx.doi.org/10.1007/s00401-021-02325-z