Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.A53T
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NUP214

NM_005085.4:p.A53T

Associated Papers

Exploring the impact of mutation and post-translational modification on α-Synuclein: Insights from molecular dynamics simulations with and without copper.

Savva L et al.

Journal of Inorganic Biochemistry, 2023

In vivo aggregation of presynaptic alpha-synuclein is not influenced by its phosphorylation at serine-129.

Weston LJ et al.

Neurobiology of Disease, 2021

Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Alpha-Synuclein Proteins Promote Pro-Inflammatory Cascades in Microglia: Stronger Effects of the A53T Mutant.

Hoenen C et al.

Plos One, 2016

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

Mouse models of cognitive deficits due to alpha-synuclein pathology.

Magen I et al.

Journal of Parkinson's Disease, 2011

Sequence determinants regulating fibrillation of human alpha-synuclein.

Koo HJ et al.

Biochemical and Biophysical Research Communications, 2008

Part II: alpha-synuclein and its molecular pathophysiological role in neurodegenerative disease.

Dev KK et al.

Neuropharmacology, 2003

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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."