Results 211 to 220 of about 28,054 (245)
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2017
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene were discovered in 2004 and have been found to be the most frequently mutated gene in Parkinson's disease. LRRK2 is a large multi-domain protein with a functional GTPase and kinase domain. The signal transduction pathways in which LRRK2 is dysfunctional in the disease state are only now being ...
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Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene were discovered in 2004 and have been found to be the most frequently mutated gene in Parkinson's disease. LRRK2 is a large multi-domain protein with a functional GTPase and kinase domain. The signal transduction pathways in which LRRK2 is dysfunctional in the disease state are only now being ...
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2017
Polymorphisms in leucine-rich repeat kinase 2 (LRRK2) have been linked to familial Parkinson's disease, increased risk of sporadic Parkinson's disease, increased risk of Crohn's inflammatory bowel disease, and increased susceptibility to leprosy. As well as LRRK2 mutations, these diseases share in common immune dysfunction and inflammation.
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Polymorphisms in leucine-rich repeat kinase 2 (LRRK2) have been linked to familial Parkinson's disease, increased risk of sporadic Parkinson's disease, increased risk of Crohn's inflammatory bowel disease, and increased susceptibility to leprosy. As well as LRRK2 mutations, these diseases share in common immune dysfunction and inflammation.
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Biochemical Society Transactions, 2012
LRRK2 (leucine-rich repeat kinase 2) is a large protein encoding multiple functional domains, including two catalytically active domains, a kinase and a GTPase domain. The LRRK2 GTPase belongs to the Ras-GTPase superfamily of GTPases, more specifically to the ROC (Ras of complex proteins) subfamily.
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LRRK2 (leucine-rich repeat kinase 2) is a large protein encoding multiple functional domains, including two catalytically active domains, a kinase and a GTPase domain. The LRRK2 GTPase belongs to the Ras-GTPase superfamily of GTPases, more specifically to the ROC (Ras of complex proteins) subfamily.
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Clinical features of LRRK2 parkinsonism
Parkinsonism & Related Disorders, 2009Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene were initially identified in large families with autosomal dominant Parkinson disease (PD). These mutations (p.R1441C, p.R1441G, p.Y1699C and p.I2020T) revealed that genetic mutations could cause clinically typical, late-onset PD.
Kristoffer, Haugarvoll +1 more
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Regulation of LRRK2 by Phosphatases
2017LRRK2 is a highly phosphorylated protein, and evidence of a physiological role for LRRK2 phosphorylation has accumulated in recent years for cellular phosphosites, many of which are found in the ANK-LRR interdomain region, i.e., the S910/S935/S955/S973 sites as well as recently for autophosphorylation sites, at least one of which has been confirmed in ...
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Identification of the Autophosphorylation Sites of LRRK2
Biochemistry, 2009Parkinson's disease (PD) is a major adult-onset neurodegenerative disorder affecting the extrapyramidal motor system. A subset of patients develop PD as an autosomal dominant trait, of which PARK8 caused by mutations in the leucine-rich repeat kinase 2 (LRRK2) gene is highlighted because of its high frequency and clinicopathological similarity to ...
Shogo, Kamikawaji +2 more
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Neurology, 2007
The past decade has seen an increasing proportion of patients with parkinsonism attributed to genetic causes.1 Two genes, leucine-rich repeat kinase 2 ( LRRK2 ; lrrk2) and α-synuclein, have been linked to dominant, late-onset Lewy body Parkinson disease (PD), whereas three genes, including parkin, PINK1, and DJ-1, have been linked to recessive early ...
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The past decade has seen an increasing proportion of patients with parkinsonism attributed to genetic causes.1 Two genes, leucine-rich repeat kinase 2 ( LRRK2 ; lrrk2) and α-synuclein, have been linked to dominant, late-onset Lewy body Parkinson disease (PD), whereas three genes, including parkin, PINK1, and DJ-1, have been linked to recessive early ...
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Biochemical and pathological characterization of Lrrk2
Annals of Neurology, 2006AbstractObjectiveMutations in leucine‐rich repeat kinase 2 (LRRK2) recently have been identified as the most common genetic cause of late‐onset sporadic and familial Parkinson's disease (PD). The studies herein explore the biological and pathological properties of Lrrk2.MethodsGenetic analysis was performed to identify autopsied patients with the most ...
Benoit I, Giasson +6 more
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Small-Molecule Inhibitors of LRRK2
2017Mutations in the leucine-rich repeat kinase 2 (LRRK2) protein have been genetically and functionally linked to Parkinson's disease (PD). The kinase activity of LRRK2 is increased by pathogenic mutations; therefore, modulation of LRRK2 kinase activity by a selective small-molecule inhibitor has been proposed as a potentially viable treatment for ...
Hatcher, John M. +3 more
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Triazolopyridazine LRRK2 kinase inhibitors
Bioorganic & Medicinal Chemistry Letters, 2013Leucine-rich repeat kinase 2 (LRRK2) has been implicated in the pathogenesis of Parkinson's disease (PD). Inhibition of LRRK2 kinase activity is a therapeutic approach that may lead to new treatments for PD. Herein we report the discovery of a series of [1,2,4]triazolo[4,3-b]pyridazines that are potent against both wild-type and mutant LRRK2 kinase ...
Maurizio, Franzini +13 more
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