Varaico: Literature-Extracted Genetic Variants

Gene:VPS35
Variant:p.D620N
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VPS35

NM_018206.6:p.D620N

Associated Papers

Convergent molecular pathways to inherited Parkinson's disease.

Pfeffer SR

Current Opinion in Cell Biology, 2026

Generation of two isogenic control iPSC lines (LCSBi001-A-2 and LCSBi001-A-3) from a Parkinson's disease patient line (LCSBi001-A) carrying the pathogenic VPS35 p.D620N mutation.

Boumpoureka I et al.

Stem Cell Research, 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

In vivo Proximity & Spatial Proteomics with CRISPR Screening Identify STXBP1 as a Protective Modifier of α-synuclein Toxicity in Dopamine Neurons.

Shonai D et al.

Biorxiv : the Preprint Server for Biology, 2026

The Assessment of RAB32 p.Ser71Arg Variant Prevalence in Parkinson's Disease Across Selected African, European, and South American Cohorts.

Olszewska DA et al.

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

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

Lu J et al.

Autophagy, 2026

Autophagy-Lysosome Pathway Dysfunction in Neurodegeneration and Cancer: Mechanisms and Therapeutic Opportunities.

Du M et al.

International Journal of Molecular Sciences, 2025

Synaptic Vesicle Disruption in Parkinson's Disease: Dual Roles of α-Synuclein and Emerging Therapeutic Targets.

Treviño M et al.

Brain Sciences, 2025

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

WES-Based Screening of a Swedish Patient Series with Parkinson's Disease.

Kafantari E et al.

Genes, 2025

E3 Ubiquitin Ligases: Structures, Biological Functions, Diseases, and Therapy.

Wang H et al.

Medcomm, 2025

JIP4 and RILPL1 utilize opposing motor force to dynamically regulate lysosomal tubulation.

Bonet-Ponce L et al.

The Journal of Cell Biology, 2025

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

Manders L et al.

Brain : a Journal of Neurology, 2025

LRRK2 kinase-mediated accumulation of lysosome-associated phospho-Rabs in tauopathies and synucleinopathies.

Buck SA et al.

Acta Neuropathologica, 2025

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

Kumar N et al.

Research Square, 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

Inborn errors of canonical autophagy in neurodegenerative diseases.

Freisem D et al.

Human Molecular Genetics, 2025

Novel regulators of heparan sulfate proteoglycans modulate cellular uptake of α-synuclein fibrils.

Vanderperre B et al.

Communications Biology, 2025

Dystonia-predominant VPS35-related parkinson's disease: diagnostic challenges and the role of Levodopa response in unmasking genetic etiology.

Tan C et al.

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

40879463 (PubMed )
Supplement: MDS-40-2251-s001.docx

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

Kentros M et al.

Brain Research, 2025

Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer's disease mouse model.

Ramonet D et al.

Acta Neuropathologica Communications, 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

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

Mapping of endosomal proximity proteomes reveals Retromer as a hub for RAB GTPase regulation.

Antón-Plágaro C et al.

Nature Communications, 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

Genetics of Parkinson's Disease: From Causes to Treatment.

Westenberger A et al.

Cold Spring Harbor Perspectives in Medicine, 2025

Inflammation and IL-4 regulate Parkinson's and Crohn's disease associated kinase LRRK2.

Dikovskaya D et al.

Embo Reports, 2025

The Parkinson Disease-Associated Mutant DNAJC13(N855S) Leads to Its Accelerated Degradation and Negatively Affects Macroautophagy and Retromer Complex-Mediated Dynamics.

Stein A et al.

Journal of Cellular Physiology, 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

Accumulation of LRRK2-associated phospho-Rab12 degenerative lysosomes in tauopathies.

Buck SA et al.

Biorxiv : the Preprint Server for Biology, 2025

LRRK2-mediated mitochondrial dysfunction in Parkinson's disease.

Buck SA et al.

The Biochemical Journal, 2025

Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.

Lucchesi M et al.

International Journal of Molecular Sciences, 2025

Emergent glutamate & dopamine dysfunction in VPS35(D620N) knock-in mice and rapid reversal by LRRK2 inhibition.

Kamesh A et al.

Npj Parkinson's Disease, 2025

The role of alpha-synuclein in synucleinopathy: Impact on lipid regulation at mitochondria-ER membranes.

Barbuti PA et al.

Npj Parkinson's Disease, 2025

40307230 (PubMed )
Supplement: 41531_2025_960_MOESM1_ESM.pdf

Retromer promotes the lysosomal turnover of mtDNA.

Kakanj P et al.

Science Advances, 2025

LRRK2, lysosome damage, and Parkinson's disease.

Bentley-DeSousa A et al.

Current Opinion in Cell Biology, 2025

Probe-dependent Proximity Profiling (ProPPr) Uncovers Similarities and Differences in Phospho-Tau-Associated Proteomes Between Tauopathies.

Morderer D et al.

Molecular Neurodegeneration, 2025

γ-secretase facilitates retromer-mediated retrograde transport.

Takeo Y et al.

Journal of Cell Science, 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

VPS35 D620N mutation impairs neurogenesis and promotes ferroptosis in Parkinson's disease by using molecular docking, molecular dynamic simulation, and cellular model.

Jiang M et al.

Frontiers in Aging Neuroscience, 2025

The crucial role of VPS35 and SHH in Parkinson's disease: Understanding the mechanisms behind the neurodegenerative disorder.

Bhardwaj K et al.

Brain Research, 2024

Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.

Lim SY et al.

The Lancet. Neurology, 2024

Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

Characterization of Dnajc12 knockout mice, a model of hypodopaminergia.

Deng IB et al.

Biorxiv : the Preprint Server for Biology, 2024

Assembly and fission of tubular carriers mediating protein sorting in endosomes.

Gopaldass N et al.

Nature Reviews. Molecular Cell Biology, 2024

1–50 of 421 papers
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