Articles with "lrrk2 mutations" as a keyword



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Altered intrinsic brain functional connectivity in drug-naïve Parkinson’s disease patients with LRRK2 mutations

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Published in 2018 at "Neuroscience Letters"

DOI: 10.1016/j.neulet.2018.03.038

Abstract: BACKGROUND Leucine-rich repeat kinase 2 (LRRK2) has been recently identified as a causative gene of Parkinson's disease (PD), and the LRRK2 R1628P and G2385R mutations are common in ethnic Han-Chinese PD patients. However, the pathogenic… read more here.

Keywords: patients lrrk2; lrrk2 mutations; drug; han chinese ... See more keywords
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Overview of the Impact of Pathogenic LRRK2 Mutations in Parkinson’s Disease

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Published in 2023 at "Biomolecules"

DOI: 10.3390/biom13050845

Abstract: Leucine-rich repeat kinase 2 (LRRK2) is a large protein kinase that physiologically phosphorylates and regulates the function of several Rab proteins. LRRK2 is genetically implicated in the pathogenesis of both familial and sporadic Parkinson’s disease… read more here.

Keywords: pathogenic mutations; parkinson disease; lrrk2 mutations; lrrk2 ... See more keywords
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Pathway-specific dysregulation of striatal excitatory synapses by LRRK2 mutations

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Published in 2020 at "eLife"

DOI: 10.7554/elife.58997

Abstract: LRRK2 is a kinase expressed in striatal spiny projection neurons (SPNs), cells which lose dopaminergic input in Parkinson’s disease (PD). R1441C and G2019S are the most common pathogenic mutations of LRRK2. How these mutations alter… read more here.

Keywords: excitatory; specific dysregulation; pathway specific; lrrk2 mutations ... See more keywords