Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.K18M
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ACTB

NM_001101.5:p.K18M

Associated Papers

Spectral Profiling of Early αsyn Aggregation in HEK293 Cells Modified to Stably Express Human WT and A53T-αsyn.

Swaminathan P et al.

Cells, 2025

41090770 (PubMed )
Supplement: cells-14-01542-s001.zip › cells-3873741-supplementary.pdf

Cholesterol-mediated Lysosomal Dysfunction in APOE4 Astrocytes Promotes α-Synuclein Pathology in Human Brain Tissue.

Mesentier-Louro LA et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Stykel MG et al.

Cell Reports, 2025

α-Synuclein-dependent increases in PIP5K1γ drive inositol signaling to promote neurotoxicity.

Horvath JD et al.

Cell Reports, 2023

Interaction Between the Glymphatic System and α-Synuclein in Parkinson's Disease.

Zhang Y et al.

Molecular Neurobiology, 2023

Pharmacological PINK1 activation ameliorates Pathology in Parkinson's Disease models.

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method.

Gilmozzi V et al.

Stem Cell Research, 2022

Deficient immunoproteasome assembly drives gain of α-synuclein pathology in Parkinson's disease.

Bi M et al.

Redox Biology, 2021

34662812 (PubMed )
Supplement: mmc1.doc

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

Pathogenic Mutations Differentially Regulate Cell-to-Cell Transmission of α-Synuclein.

Guan Y et al.

Frontiers in Cellular Neuroscience, 2020

GBA RNAi but not catalytic inhibition of glucocerebrosidase with Conduritol-β-epoxide increases levels of total α-synuclein in SH-SY5Y cells.

Zurbruegg M et al.

Neuroscience Letters, 2019

The role of mutations associated with familial neurodegenerative disorders on blood-brain barrier function in an iPSC model.

Katt ME et al.

Fluids and Barriers of the Cns, 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

Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.

Tsigelny IF et al.

Acs Chemical Neuroscience, 2015

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

Age-dependent effects of A53T alpha-synuclein on behavior and dopaminergic function.

Oaks AW et al.

Plos One, 2013

Alpha-synuclein inhibits aromatic amino acid decarboxylase activity in dopaminergic cells.

Tehranian R et al.

Journal of Neurochemistry, 2006

Dopamine transporter-mediated cytotoxicity of 6-hydroxydopamine in vitro depends on expression of mutant alpha-synucleins related to Parkinson's disease.

Lehmensiek V et al.

Neurochemistry International, 2006

Expression of mutant alpha-synucleins enhances dopamine transporter-mediated MPP+ toxicity in vitro.

Lehmensiek V et al.

Neuroreport, 2002

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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."