Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1
Variant:p.K18M
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NLRP1

NM_033004.4:p.K18M

Associated Papers

The OGG1 Ser326Cys polymorphism: molecular mechanisms of disease susceptibility and precision medicine applications.

Wang X et al.

Clinical Epigenetics, 2025

Mouse α-synuclein fibrils are structurally and functionally distinct from human fibrils associated with Lewy body diseases.

Sokratian A et al.

Science Advances, 2024

39485845 (PubMed )
Supplement: sciadv.adq3539_sm.pdf

Innate immune activation in neurodegenerative diseases.

Castro-Gomez S et al.

Immunity, 2024

Neuronal identity defines α-synuclein and tau toxicity.

Praschberger R et al.

Neuron, 2023

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 2020

Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Autosomal dominant Parkinson's disease and the route to new therapies.

Morris HR

Expert Review of Neurotherapeutics, 2007

Trypsin disrupts the trafficking of the human dopamine transporter by alpha-synuclein and its A30P mutant.

Wersinger C et al.

Biochemistry, 2004

Fe(II)-induced DNA damage in alpha-synuclein-transfected human dopaminergic BE(2)-M17 neuroblastoma cells: detection by the Comet assay.

Martin FL et al.

Journal of Neurochemistry, 2003

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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."