Varaico: Literature-Extracted Genetic Variants

Gene:SNCB
Variant:p.V70M
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SNCB

NM_003085.5:p.V70M

Associated Papers

Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.

Bao J et al.

Biomedicines, 2025

40427062 (PubMed )
Supplement: biomedicines-13-01235-s001.zip › Supplement_Table_S8.xlsx › Total

Synucleinopathies: Intrinsic and Extrinsic Factors.

Lomeli-Lepe AK et al.

Cell Biochemistry and Biophysics, 2023

Intragenic β-synuclein rearrangements in malignancy.

Xiao P et al.

Frontiers in Oncology, 2023

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Kim TE et al.

Human Molecular Genetics, 2021

Dementia with Lewy bodies-associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions.

Psol M et al.

Human Molecular Genetics, 2021

Genetics of synucleins in neurodegenerative diseases.

Brás J et al.

Acta Neuropathologica, 2021

Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.

Zhang W et al.

Annals of Clinical and Translational Neurology, 2020

32941707 (PubMed )
Supplement: ACN3-7-1985-s003.xlsx › sheet

Genetic architecture of common non-Alzheimer's disease dementias.

Guerreiro R et al.

Neurobiology of Disease, 2020

Possible Role of Amyloidogenic Evolvability in Dementia with Lewy Bodies: Insights from Transgenic Mice Expressing P123H β-Synuclein.

Fujita M et al.

International Journal of Molecular Sciences, 2020

The genetics of dementia with Lewy bodies.

Tolea MI et al.

Handbook of Clinical Neurology, 2018

An update on the genetics of dementia with Lewy bodies.

Vergouw LJM et al.

Parkinsonism & Related Disorders, 2017

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

Yeast reveals similar molecular mechanisms underlying alpha- and beta-synuclein toxicity.

Tenreiro S et al.

Human Molecular Genetics, 2016

The loss of inhibitory C-terminal conformations in disease associated P123H β-synuclein.

Janowska MK et al.

Protein Science : a Publication of the Protein Society, 2016

Possible alterations in β-Synuclein, the non-amyloidogenic homologue of α-Synuclein, during progression of sporadic α-synucleinopathies.

Fujita M et al.

International Journal of Molecular Sciences, 2012

Bridging molecular genetics and biomarkers in lewy body and related disorders.

Ho GJ et al.

International Journal of Alzheimer's Disease, 2011

The decrease of β-synuclein in cortical brain areas defines a molecular subgroup of dementia with Lewy bodies.

Beyer K et al.

Brain : a Journal of Neurology, 2010

A β-synuclein mutation linked to dementia produces neurodegeneration when expressed in mouse brain.

Fujita M et al.

Nature Communications, 2010

Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.

Nishioka K et al.

Archives of Neurology, 2010

Gangliosides' protection against lysosomal pathology of synucleinopathies.

Wei J et al.

Autophagy, 2009

Neurotoxic conversion of beta-synuclein: a novel approach to generate a transgenic mouse model of synucleinopathies?

Fujita M et al.

Journal of Neurology, 2009

Recent advances in the genetics of dementia with lewy bodies.

Bonifati V

Current Neurology and Neuroscience Reports, 2008

Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.

Wei J et al.

The Journal of Biological Chemistry, 2007

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.

Bogaerts V et al.

Brain : a Journal of Neurology, 2007

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

Pathophysiology of synuclein aggregation in Lewy body disease.

Mukaetova-Ladinska EB et al.

Mechanisms of Ageing and Development, 2006

Beta-synuclein gene alterations in dementia with Lewy bodies.

Ohtake H et al.

Neurology, 2004

Genetics in degenerative dementia: current status and applicability.

Bruni AC et al.

Alzheimer Disease and Associated Disorders, 0

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