Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.D18V
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PRNP

NM_000311.5:p.D18V

Associated Papers

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

G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.

Stykel MG et al.

Cell Reports, 2025

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Structurally targeted mutagenesis identifies key residues supporting α-synuclein misfolding in multiple system atrophy.

Reis PM et al.

Journal of Parkinson's Disease, 2024

Structurally targeted mutagenesis identifies key residues supporting α -synuclein misfolding in multiple system atrophy.

Reis PM et al.

Biorxiv : the Preprint Server for Biology, 2024

Targeting Biomolecular Condensation and Protein Aggregation against Cancer.

Silva JL et al.

Chemical Reviews, 2023

The E46K mutation modulates α-synuclein prion replication in transgenic mice.

Holec SAM et al.

Plos Pathogens, 2022

Unique seeding profiles and prion-like propagation of synucleinopathies are highly dependent on the host in human α-synuclein transgenic mice.

Lloyd GM et al.

Acta Neuropathologica, 2022

Reduced oligodendrocyte exosome secretion in multiple system atrophy involves SNARE dysfunction.

Yu Z et al.

Brain : a Journal of Neurology, 2020

32428221 (PubMed )
Supplement: awaa110_supplementary_data.zip › awaa110-suppl_data › Yu_et_al_MSA_exosomes_Suppl_material_2020-4-7_rev_AU_.docx

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

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Sequence- and seed-structure-dependent polymorphic fibrils of alpha-synuclein.

Tanaka G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

Replication of multiple system atrophy prions in primary astrocyte cultures from transgenic mice expressing human α-synuclein.

Krejciova Z et al.

Acta Neuropathologica Communications, 2019

Different Effects of α-Synuclein Mutants on Lipid Binding and Aggregation Detected by Single Molecule Fluorescence Spectroscopy and ThT Fluorescence-Based Measurements.

Ruf VC et al.

Acs Chemical Neuroscience, 2019

Oligodendrogliopathy in neurodegenerative diseases with abnormal protein aggregates: The forgotten partner.

Ferrer I

Progress in Neurobiology, 2018

α-synuclein Induces Mitochondrial Dysfunction through Spectrin and the Actin Cytoskeleton.

Ordonez DG et al.

Neuron, 2018

Achieving neuroprotection with LRRK2 kinase inhibitors in Parkinson disease.

West AB

Experimental Neurology, 2017

Deferiprone Rescues Behavioral Deficits Induced by Mild Iron Exposure in a Mouse Model of Alpha-Synuclein Aggregation.

Carboni E et al.

Neuromolecular Medicine, 2017

Higher levels of myelin phospholipids in brains of neuronal α-Synuclein transgenic mice precede myelin loss.

Grigoletto J et al.

Acta Neuropathologica Communications, 2017

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

Chaperone and anti-chaperone: two-faced synuclein as stimulator of synaptic evolution.

Fujita M et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2006

Alpha-synuclein overexpression increases cytosolic catecholamine concentration.

Mosharov EV et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice.

Gomez-Isla T et al.

Neurobiology of Aging, 0

Genetics in degenerative dementia: current status and applicability.

Bruni AC et al.

Alzheimer Disease and Associated Disorders, 0

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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."