Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E83Q
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SNCA

NM_000345.4:p.E83Q

Associated Papers

In vitro-prepared A30P alpha-synuclein fibrils adopt the conserved and disease-relevant Greek key fold.

Milchberg MH et al.

Biorxiv : the Preprint Server for Biology, 2026

Unfolding Sequence-Specific Enigma in Monomeric α-Synuclein: Implications for Parkinson's Disease.

Ranjan P et al.

Acs Chemical Neuroscience, 2026

Hydrophobic residues in the α-synuclein NAC domain drive seed-competent fibril formation and are targeted by peptide inhibitors.

Das V et al.

The Febs Journal, 2026

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Brücke C et al.

Molecular Neurodegeneration, 2025

Amyloid formation of alternatively spliced variants of α-synuclein.

SanGiovanni DQ et al.

Protein Science : a Publication of the Protein Society, 2025

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.

Brücke C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Glycine-to-aspartic acid mutation at codon 51 in Snca disrupts the synaptic localisation of α-synuclein and enhances its propensity for synucleinopathy.

West S et al.

Brain Communications, 2025

α-Synuclein in Parkinson's Disease: 12 Years Later.

Vekrellis K et al.

Cold Spring Harbor Perspectives in Medicine, 2024

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

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

Reis PM et al.

Journal of Parkinson's Disease, 2024

A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Eissazade N et al.

Parkinsonism & Related Disorders, 2024

Expert Commentary: A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

Uribe Roca MC

Parkinsonism & Related Disorders, 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

39026799 (PubMed )
Supplement: media-1.pdf

Liquid-liquid phase separation of α-synuclein is highly sensitive to sequence complexity.

Mahapatra A et al.

Protein Science : a Publication of the Protein Society, 2024

Liquid-liquid phase separation of α-synuclein is highly sensitive to sequence complexity.

Mahapatra A et al.

Biorxiv : the Preprint Server for Biology, 2023

Intramolecular interaction kinetically regulates fibril formation by human and mouse α-synuclein.

Ohgita T et al.

Scientific Reports, 2023

Functional and Pathological Effects of α-Synuclein on Synaptic SNARE Complexes.

Gao V et al.

Journal of Molecular Biology, 2023

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

Holec SAM et al.

Plos Pathogens, 2022

Ultrastructural and biochemical classification of pathogenic tau, α-synuclein and TDP-43.

Tarutani A et al.

Acta Neuropathologica, 2022

A NAC domain mutation (E83Q) unlocks the pathogenicity of human alpha-synuclein and recapitulates its pathological diversity.

Kumar ST et al.

Science Advances, 2022

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies.

Nishioka K et al.

Frontiers in Neurology, 2022

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Fevga C et al.

Parkinsonism & Related Disorders, 2021

A novel SNCA E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration.

Kapasi A et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020

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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."