Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1441C
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LRRK2

NM_198578.4:p.R1441C

Associated Papers

No evidence for the LRRK2 p.L1795F variant in a Southern Italian cohort with Parkinson's disease.

Gagliardi M et al.

Gene, 2026

Familial young-onset Parkinson's disease associated with SNCA gene duplication: a case series of three sisters from Turkey.

Işeri P et al.

Neurocase, 2026

APOE, Aβ42, and tau differentially impact cognitive decline in Sporadic, GBA1 and LRRK2 Parkinson's disease.

Botta R et al.

Npj Parkinson's Disease, 2026

Convergent molecular pathways to inherited Parkinson's disease.

Pfeffer SR

Current Opinion in Cell Biology, 2026

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Singh K et al.

Cells, 2026

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved peptide motif.

Waschbüsch D et al.

Structure (london, England : 1993), 2026

Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

Lim KS et al.

Npj Parkinson's Disease, 2026

41629305 (PubMed )
Supplement: 41531_2026_1265_MOESM2_ESM.xlsx › Supplementary_Table_9

Structural and biochemical basis of ROC-dependent activation of LRRK2.

Hoang Q et al.

Research Square, 2026

Protective or Pathogenic? Kinase activity and the neurodevelopmental origins of G2019S LRRK2-Associated Parkinson's disease.

Gatto EM et al.

Parkinsonism & Related Disorders, 2026

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α-Synuclein Status in Sporadic and Genetic Parkinson's Disease.

Duong MT et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2026

LRRK2 regulates ArfGAP1 membrane localization, activity and neuronal toxicity via phosphorylation within its lipid-sensing ALPS2 motif.

Shariful Islam M et al.

Biorxiv : the Preprint Server for Biology, 2026

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson's disease.

Deng X et al.

Plos One, 2026

MC1R loss-of-function is associated with accelerated Parkinson's disease motor decline.

Schumacher JG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.

Step K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445612 (PubMed )
Supplement: media-1.pdf

LRRK2 as a Potential Disease-Modifying Target in Sporadic Parkinson's Disease.

Lang AE et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Animal Models of Parkinson's Disease.

Dawson VL et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.

Hodrob T et al.

Journal of Genetic Counseling, 2025

Interferon gamma stimulates coordinated changes in LRRK2, GCase, and cathepsin activities in idiopathic and genetic Parkinson's disease monocytes.

Hughes LP et al.

Npj Parkinson's Disease, 2025

A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease.

Zheng X et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

41277530 (PubMed )
Supplement: supplement_1.docx

Parkinson's-Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa.

Mark JR et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

LRRK2 p.G2385R and p.R1628P variants in a multi-ethnic Asian Parkinson's Cohort: epidemiology and clinical insights.

Goh JW et al.

Npj Parkinson's Disease, 2025

Dysfunctional Alternative Polyadenylation Modifies the Penetrance of LRRK2 Variants in Parkinson's Disease.

Yang S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

41239858 (PubMed )
Supplement: supplement_1.docx

Parkinson disease is a fatty acidopathy.

Fanning S et al.

Nature Reviews. Neurology, 2025

Cryo-electron tomography reveals the microtubule-bound form of inactive LRRK2.

Chen S et al.

Elife, 2025

VPS35 mutation inhibits PINK1/parkin-mediated mitophagy via increased LRRK2 kinase activity.

Manders L et al.

Brain : a Journal of Neurology, 2025

LRRK2 and the fragile synapse: a molecular prelude to Parkinson's disease?

Masotti B et al.

The Biochemical Journal, 2025

Synaptojanin-1 supports VPS35-dependent trafficking of dopamine D2 autoreceptors at presynaptic terminals.

Kumar N et al.

Research Square, 2025

Decreased SNCA expression in whole-blood RNA analysis of Parkinson's disease adjusting for neutrophils.

Xu KY et al.

Npj Parkinson's Disease, 2025

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Akçimen F et al.

Brain : a Journal of Neurology, 2025

LRRK2 deficiency mitigates amyloid β deposition-mediated pathology in a murine Alzheimer's disease model by reprogramming microglia.

Zhang Q et al.

Translational Psychiatry, 2025

Functional and Structural Characterization of LRRK2 p.V1447L in Parkinson's Disease.

Pratuseviciute N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Parkinson's disease LRRK2 mutations dysregulate iron homeostasis and promote oxidative stress and ferroptosis in human neurons and astrocytes.

Mamais A et al.

Biorxiv : the Preprint Server for Biology, 2025

Regulation of LRRK2 activity by metabolic stress and heavy metal exposure.

Kentros M et al.

Brain Research, 2025

ANKK1, ANKRD50, GRK5, PACSIN1 and VPS8 are novel candidate genes associated with late onset Parkinson's disease: Definition of a novel predictive protocol based on polygenic model of inheritance.

Carrillo F et al.

Neurobiology of Disease, 2025

Clinical feature and alpha-synuclein level of restless legs syndrome with leucine-rich repeat kinase 2 encoding gene mutation.

Guo X et al.

Parkinsonism & Related Disorders, 2025

DeepMVP: deep learning models trained on high-quality data accurately predict PTM sites and variant-induced alterations.

Wen B et al.

Nature Methods, 2025

Genetic Basis of Sleep Dysfunction in Parkinson's Disease and Parkinsonism.

Wan YM et al.

Sleep Medicine Clinics, 2025

Lrrk2 G2019S mutation incites increased cell-intrinsic neutrophil effector functions and intestinal inflammation in a model of infectious colitis.

Pei J et al.

Npj Parkinson's Disease, 2025

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson's disease.

Chiang CY et al.

Cell Reports, 2025

Structural basis for binding of RILPL1 to TMEM55B reveals a lysosomal platform for adaptor assembly through a conserved TBM motif.

Waschbüsch D et al.

Biorxiv : the Preprint Server for Biology, 2025

Computational association in parkinson's disease SNPs with brain structural and functional alterations.

Subramaniyan S et al.

Neurogenetics, 2025

Lysosomal glucocerebrosidase is needed for ciliary Hedgehog signaling: A convergent pathway contributing to Parkinson's disease.

Nair SV et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

14-3-3 binding maintains the Parkinson's associated kinase LRRK2 in an inactive state.

Martinez Fiesco JA et al.

Nature Communications, 2025

Therapeutic Targeting of Autosomal Parkinson's Disease by Modulation of Leucine-Rich Repeat Kinase 2 (LRRK2) Protein.

Hyderi Z et al.

Brain Research, 2025

Parkinson's disease associated with LRRK2-R1441C mutation: Characterization and comparison with other LRRK2 mutations.

Hadad R et al.

Journal of Parkinson's Disease, 2025

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Anis S et al.

Parkinsonism & Related Disorders, 2025

Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study.

Do MD et al.

Neurogenetics, 2025

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