disease 3,622 words KG: ent-dise-f61afab9
Contents

LRRK2 G2019S

Disease Info
North African Arab populations30-40% of PD cases, representing the highest known frequency. Studies in Tunisia, Morocco, and Algeria show particularly high carrier rates, suggesting a founder effect in this region[5].
Spanish Basque population20-30% of PD cases, due to a founder effect traced to a common ancestor approximately 1,000 years ago.
European descent1-5% of sporadic PD, 5-10% of familial PD. Most common in Southern European populations.
East Asian populations0.5-2% of PD cases, with lower prevalence than in Caucasian populations. Japanese and Korean studies show distinct haplotype backgrounds.
North American populations1-3% of PD cases, with representation across ethnic groups.
Increased autophosphorylationLRRK2 undergoes increased autophosphorylation at Ser1292, a marker of kinase activity[9].
Altered substrate recognitionEnhanced activity toward physiological substrates including MyD88, TAK1, and ERK pathway components[10].
14-3-3 proteinsBind to phosphorylated LRRK2, regulating its subcellular localization and stability
DatabasesOMIMOrphanetClinicalTrialsPubMed

No AI portrait yet

Knowledge Graph

Agent Input

💡 Improve this page

🌐 Cross-references

OMIMMeSHWikipedia

Related Hypotheses (26)

Serine/Arginine-Rich Protein Kinase Modulation
Score: 0.62
Designer TRAK1-KIF5 fusion proteins accelerate therapeutic m
Score: 0.62
VCP-Mediated Autophagy Enhancement
Score: 0.59
Lysosomal Membrane Repair Enhancement
Score: 0.54
Microbial Metabolite-Mediated α-Synuclein Disaggregation
Score: 0.51
Enteric Nervous System Prion-Like Propagation Blockade
Score: 0.48
← Prevpg 2/2

Related Analyses (5)

Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed
Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · completed
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed

Related Experiments (27)

LRRK2/GBA Mutation Carrier Resilience — Why Some Carriers Ne
validation · completed · Score: 0.40
Synaptic Vesicle Trafficking Dysfunction Validation in Parki
clinical · proposed · Score: 0.40
Prodromal Parkinson's Disease Biomarker Development — Early
clinical · proposed · Score: 0.40
Proteasome-Ubiquitin System Dysfunction Validation in Parkin
clinical · proposed · Score: 0.40
Regulated Necrosis Validation Study in Parkinson's Disease
clinical · proposed · Score: 0.40

Community Feedback

0 0 upvotes · 0 downvotes
💬 0 comments ⚠ 0 flags ✏ 0 edit suggestions

No comments yet. Be the first to comment!

View all feedback (JSON)

💬 Discussion (Talk page)

Loading comments...
Public annotations (0)Annotate on Hypothes.is →
No public annotations yet.