Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.T72M
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SNCA

NM_000345.4:p.T72M

Associated Papers

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

Ranjan P et al.

Acs Chemical Neuroscience, 2026

A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.

Al-Azzani M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Brücke C et al.

Molecular Neurodegeneration, 2025

Submolecular Resolution Imaging of Amyloid Aggregation: An STM Approach to Decipher Missense Mutation Effects in α-Synuclein.

Deng Z et al.

Nano Letters, 2025

A novel alpha-synuclein K58N missense variant in a patient with Parkinson's disease.

Al-Azzani M et al.

Medrxiv : the Preprint Server for Health Sciences, 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

The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

Alefanti I et al.

European Journal of Neurology, 2025

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

Vekrellis K et al.

Cold Spring Harbor Perspectives in Medicine, 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

Resequencing the complete SNCA locus in Indian patients with Parkinson's disease.

Kishore A et al.

Npj Parkinson's Disease, 2024

In silico analysis of alpha-synuclein protein variants and posttranslational modifications related to Parkinson's disease.

da Silva ANR et al.

Journal of Cellular Biochemistry, 2024

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

Consequences of variability in α-synuclein fibril structure on strain biology.

Holec SAM et al.

Acta Neuropathologica, 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 population scale analysis of rare SNCA variation in the UK Biobank.

Blauwendraat C et al.

Neurobiology of Disease, 2021

33307186 (PubMed )
Supplement: NIHMS1657197-supplement-mmc4.xls › Sup_Table_1
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