Varaico: Literature-Extracted Genetic Variants

Gene:LRRK2
Variant:p.R1441H
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LRRK2

NM_198578.4:p.R1441H

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

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

Glucosylceramide-induced ectosomes propagate pathogenic α-synuclein in Parkinson's disease.

Jacquemyn J et al.

Nature Cell Biology, 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

Effect of deep brain stimulation on early-onset Parkinson's disease with mutations in a Han Chinese Mainland population.

Chen S et al.

Bmc Neurology, 2026

Neurodegenerative disease and autophagy in iPSC-based models.

Odonchimed S et al.

Neuroscience Research, 2026

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

Deng X et al.

Plos One, 2026

Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.

Barbosa PM et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2025

The genetic architecture of Parkinson's disease on the Island of Crete.

Boura I et al.

Npj Parkinson's Disease, 2025

Alpha-Synuclein Neurobiology in Parkinson's Disease: A Comprehensive Review of Its Role, Mechanisms, and Therapeutic Perspectives.

Pitton Rissardo J et al.

Brain Sciences, 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

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

Masotti B et al.

The Biochemical Journal, 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

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

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

Autophagic stress activates distinct compensatory secretory pathways in neurons.

Palumbos SD et al.

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

The Global Landscape of Genetic Variation in Parkinson's disease: Multi-Ancestry Insights into Established Disease Genes and their Translational Relevance.

Lange LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.

Koros C et al.

Biomedicines, 2025

Leucine-Rich Repeat Kinase 2: Pathways to Parkinson's Disease.

Pfeffer SR et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Role of LRRK2 in axonal transport and Parkinson's disease.

Twellsieck B et al.

The Biochemical Journal, 2025

Neuropathological examination of 12 cases of familial Parkinson's disease with LRRK2 I2020T mutation including tau and TDP-43 pathology.

Uchino A et al.

Journal of Neurology, 2025

Single-nucleus transcriptomics reveals disease- and pathology-specific signatures in α-synucleinopathies.

Nido GS et al.

Brain : a Journal of Neurology, 2025

LRRK2 rare-variant per-domain genetic burden in Parkinson's Disease: association confined to the kinase domain.

Parlar SC et al.

Npj Parkinson's Disease, 2025

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

The homozygous LRRK2.p.N1437D point mutation mouse is a novel model of parkinsonism.

Gan LH 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.

Medrxiv : the Preprint Server for Health Sciences, 2025

Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.

Bonato G et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

39034353 (PubMed )
Supplement: 10072_2024_7690_MOESM1_ESM.docx

Contribution of Genetics to Parkinson's Disease and Future Prospects.

Funayama M

Juntendo Medical Journal, 2025

Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dust.

Talavera Andújar B et al.

Environment International, 2024

Molecular dynamics studies reveal the structural impacts of LRRK2 R1441C and LRRK2 D1994A mutations in Parkinson's disease.

Rahman RA et al.

Biochemistry and Biophysics Reports, 2024

Autophagic stress activates distinct compensatory secretory pathways in neurons.

Palumbos SD et al.

Biorxiv : the Preprint Server for Biology, 2024

The p.Gly2019Ser is a common LRRK2 pathogenic variant among Egyptians with familial and sporadic Parkinson's disease.

William MB et al.

Npj Parkinson's Disease, 2024

Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.

Cook L et al.

Brain : a Journal of Neurology, 2024

39074992 (PubMed )
Supplement: awae142_supplementary_data.zip › brain-2023-02602-File009.pdf

Low-dose radiation decreases Lrrk2 levels in the striatum of large mammalian brains: New venues to treat Parkinson's disease?

Iacono D et al.

Parkinsonism & Related Disorders, 2024

Cell-autonomous role of leucine-rich repeat kinase in the protection of dopaminergic neuron survival.

Kang J et al.

Elife, 2024

RAB3 phosphorylation by pathogenic LRRK2 impairs trafficking of synaptic vesicle precursors.

Dou D et al.

The Journal of Cell Biology, 2024

p.L1795F LRRK2 variant is a common cause of Parkinson's disease in Central Europe.

Ostrozovicova M et al.

Research Square, 2024

Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.

Tropea TF et al.

Npj Parkinson's Disease, 2024

38702337 (PubMed )
Supplement: 41531_2024_690_MOESM1_ESM.pdf

Understanding monogenic Parkinson's disease at a global scale.

Junker J et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.

Dorion MF et al.

Molecular Neurodegeneration, 2024

38576039 (PubMed )
Supplement: 13024_2024_723_MOESM3_ESM.xlsx › iPSC_lines

Cell autonomous role of leucine-rich repeat kinase in protection of dopaminergic neuron survival.

Kang J et al.

Biorxiv : the Preprint Server for Biology, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."