Neringa Pratuseviciute
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View article: Functional and Structural Characterization of <scp>LRRK2</scp> p. <scp>V1447L</scp> in Parkinson's Disease
Functional and Structural Characterization of <span>LRRK2</span> p. <span>V1447L</span> in Parkinson's Disease Open
Background Gain‐of‐kinase‐function variants in LRRK2 are a leading cause of monogenic Parkinson's disease (PD). Objectives We tested the functional impact of a novel LRRK2 variant p.V1447L identified in a young‐onset PD patient in vivo in …
View article: Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson’s Disease
Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson’s Disease Open
Background Gain-of-kinase-function variants in LRRK2 are a leading cause for Parkinson’s disease (PD). Objectives We tested the functional impact of a novel LRRK2 variant p.V1447L identified in a young onset PD patient in vivo in periphera…
View article: PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease
PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease Open
Leucine-rich repeat kinase 2 (LRRK2) phosphorylates a subset of Rab GTPases that regulate receptor trafficking; activating mutations in LRRK2 are linked to Parkinson’s disease. Rab phosphorylation is a transient event that can be reversed …
View article: The New p.<scp>F1700L LRRK2</scp> Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity
The New p.<span>F1700L LRRK2</span> Variant Causes Parkinson's Disease by Extensively Increasing Kinase Activity Open
Variants in LRRK2 represent the most frequent cause of clinically classical monogenic Parkinson's disease (PD).1 Altered LRRK2 protein function boosts neuroinflammation, impairs vesicle trafficking, and affects ciliogenesis within the stri…
View article: R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
R1441G but not G2019S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils Open
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…
View article: R1441G but not G201S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils
R1441G but not G201S mutation enhances LRRK2 mediated Rab10 phosphorylation in human peripheral blood neutrophils Open
Gain-of kinase function variants in LRRK2 (leucine-rich repeat kinase 2) cause Parkinson’s disease (PD), albeit with incomplete and age-dependent penetrance, offering the prospect of disease-modifying treatment strategies via LRRK2 kinase …