disease 871 words KG: ent-dise-6d9d7e47 2026-03-22
kind:diseasesection:diseasesstate:published
Contents

LRRK2 Gene Variants and Mutations

Disease Info
Kinase domainPhosphorylates target proteins (including itself through autophosphorylation)
ROC domainGTPase activity, regulates protein interactions
COR domainMediates dimerization
LRR domainProtein-protein interactions
WD40 repeatScaffold for protein complexes
Neuronal signalingRegulates various signaling pathways in neurons
Protein sortingControls vesicular trafficking through Rab GTPase interactions
Mitochondrial functionAssociates with mitochondrial outer membrane
Synaptic plasticityInvolved in dopamine receptor signaling
G2019SCommon in European and North African populations (up to 30% of familial PD in some populations)
R1441GHighly prevalent in Basque population (up to 50% of familial PD)
G2385RRisk factor in East Asian populations
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph

Related Hypotheses (7)

Multi-Modal CRISPR Platform for Simultaneous Editing and Mon
Score: 0.42
Purinergic Signaling Polarization Control
Score: 0.55
Mechanosensitive Ion Channel Reprogramming
Score: 0.51
Lipid Droplet Dynamics as Phenotype Switches
Score: 0.46
CYP46A1 Overexpression Gene Therapy
Score: 0.63

Related Analyses (6)

Astrocyte reactivity subtypes in neurodegeneration
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · archived

Related Experiments (23)

LRRK2/GBA Mutation Carrier Resilience — Why Some Carriers Ne
validation · proposed · Score: 0.40
AAV Serotype Comparison for LRRK2 Knockdown in PD Gene Thera
validation · proposed · Score: 0.40
AAV-LRRK2 IND-Enabling Study Design
clinical · proposed · Score: 0.40
AAV Serotype Comparison for LRRK2 Knockdown in PD
validation · proposed · Score: 0.40
Alpha-Synuclein Aggregation Triggers — Sporadic PD Initiatio
clinical · proposed · Score: 0.40

See Also (15)

Therapeutic Modalities in Neurodegeneration
therapeutic · Pages share 4 hypotheses
Section 234: Advanced Acupuncture and Traditional Chine
therapeutic · Pages share 4 hypotheses
Section 147: Telehealth and Remote Monitoring in CBS/PS
therapeutic · Pages share 4 hypotheses
Integrated Stress Response Modulator Therapy in Neurode
therapeutic · Pages share 4 hypotheses
Epigenetic Editing and CRISPR Approaches in CBS/PSP
therapeutic · Pages share 4 hypotheses