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Manzoni, C.* ; Mamais, A.* ; Dihanich, S.* ; McGoldrick, P.* ; Devine, M.J.* ; Zerle, J. ; Kara, E.* ; Taanman, J.W.* ; Healy, D.G.* ; Marti-Masso, J.F.* ; Schapira, A.H.* ; Plun-Favreau, H.* ; Tooze, S.* ; Hardy, J.* ; Bandopadhyay, R.* ; Lewis, P.A.*

Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.

Biochem. Biophys. Res. Commun. 441, 862-866 (2013)
Verlagsversion Volltext DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
LRRK2 is one of the most important genetic contributors to Parkinson's disease (PD). Point mutations in this gene cause an autosomal dominant form of PD, but to date no cellular phenotype has been consistently linked with mutations in each of the functional domains (ROC, COR and Kinase) of the protein product of this gene. In this study, primary fibroblasts from individuals carrying pathogenic mutations in the three central domains of LRRK2 were assessed for alterations in the autophagy/lysosomal pathway using a combination of biochemical and cellular approaches. Mutations in all three domains resulted in alterations in markers for autophagy/lysosomal function compared to wild type cells. These data highlight the autophagy and lysosomal pathways as read outs for pathogenic LRRK2 function and as a marker for disease, and provide insight into the mechanisms linking LRRK2 function and mutations.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter LRRK2; Parkinson's disease; Autophagy; Lysosomes; Signaling pathway; Kinase-activity; Autophagy; Mutant; 4e-bp; Phosphorylation; Pathway
ISSN (print) / ISBN 0006-291X
e-ISSN 1090-2104
Zeitschrift Biochemical and Biophysical Research Communications
Quellenangaben Band: 441, Heft: 4, Seiten: 862-866 Artikelnummer: , Supplement: ,
Verlag Elsevier
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Developmental Genetics (IDG)