Human Molecular Genetics · 2007 · 176 citations · 45 references
Life SciencesCell BiologyMolecular BiologyMembrane TraffickingMolecular NeurobiologyMolecular NeuroscienceLipid RaftsNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersProtein Trafficking In NeuronsFractionationGolgi Apparatus LocalizationLeucine-rich Repeat DomainsLeucine-rich Repeat Receptor-like KinasesLipid Raft AssociationLipid Raft StructureLrrk2 MutationsProtein-membrane Association
Leucine-Rich Repeat Kinase 2 (LRRK2) is a causative gene for the autosomal dominant form of Parkinson's disease (PD). The gene encodes the approximately 280 kDa LRRK2 protein composed of domains such as leucine-rich repeats, Ras in complex proteins (Roc) followed by C-terminal of Roc (COR), mitogen-activated protein kinase kinase kinase (MAPKKK) and WD40. However, the normal function of the protein as well as its contribution to the pathogenesis of PD remains largely unknown. Here we describe the localization of LRRK2 in Golgi apparatus, plasma membrane and synaptic vesicles in cultured cells including mouse primary neurons. The membrane association of LRRK2 resists solubilization by ice-cold 1% Triton X-100, indicating its association through lipid rafts. To investigate whether mutations found in PD patients affect the localization of LRRK2, we transfected various LRRK2 mutants into cultured cells and performed fractionation experiments. Unexpectedly, the mutants are collected in both membrane and soluble fractions in a manner similar to wild type (WT). I2020T mutant LRRK2 associates with lipid rafts, similar to the WT. The lipid raft association of LRRK2 mutants as well as WT LRRK2 suggests that alteration of LRRK2 function on lipid rafts contributes to the pathogenesis of PD.
45
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in <i>PINK1</i>
Enza Maria Valente, Patrick M. Abou‐Sleiman, Viviana Caputo et al. · Science · 2004 · 3.5K citations · Full text
Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic Pathology
Alexander Zimprich, Saskia Biskup, Petra Leitner et al. · Neuron · 2004 · 3.1K citations · Full text
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
Coro Paisán-Ruı́z, Shushant Jain, E. Whitney Evans et al. · Neuron · 2004 · 2.4K citations · Full text
Mice Lacking α-Synuclein Display Functional Deficits in the Nigrostriatal Dopamine System
Asa Abeliovich, Yvonne Schmitz, Isabel Fariñas et al. · Neuron · 2000 · 1.7K citations · Full text