Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.K12M
Back to variants list

SNCA

NM_000345.4:p.K12M

Associated Papers

α-Synuclein mutation impairs processing of endomembrane compartments and promotes exocytosis and seeding of α-synuclein pathology.

Stykel MG et al.

Cell Reports, 2021

Neurons and Glia Interplay in α-Synucleinopathies.

Mavroeidi P et al.

International Journal of Molecular Sciences, 2021

The Role of Glial Mitochondria in α-Synuclein Toxicity.

Jeon YM et al.

Frontiers in Cell and Developmental Biology, 2020

Nitration of microtubules blocks axonal mitochondrial transport in a human pluripotent stem cell model of Parkinson's disease.

Stykel MG et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2018

Impaired Photic Entrainment of Spontaneous Locomotor Activity in Mice Overexpressing Human Mutant α-Synuclein.

Pfeffer M et al.

International Journal of Molecular Sciences, 2018

A stress-enhanced model for discovery of disease-modifying gene: Ece1-suppresses the toxicity of α-synuclein A30P.

Chen AY et al.

Neurobiology of Disease, 2018

Mitochondrial dynamic changes in health and genetic diseases.

Chen L et al.

Molecular Biology Reports, 2014

Long-term polarization of microglia upon α-synuclein overexpression in nonhuman primates.

Barkholt P et al.

Neuroscience, 2012

The neuropathology, pathophysiology and genetics of multiple system atrophy.

Ahmed Z et al.

Neuropathology and Applied Neurobiology, 2012

Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease.

Schiesling C et al.

Neuropathology and Applied Neurobiology, 2008

alpha-Synuclein fission yeast model: concentration-dependent aggregation without plasma membrane localization or toxicity.

Brandis KA et al.

Journal of Molecular Neuroscience : Mn, 2006

Stabilization of alpha-synuclein protein with aging and familial parkinson's disease-linked A53T mutation.

Li W et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."