Varaico: Literature-Extracted Genetic Variants

Gene:DYNAP
Variant:p.Q18L
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DYNAP

NM_173629.3:p.Q18L

Associated Papers

TOLLIP acts as a cargo adaptor to promote lysosomal degradation of aberrant ER membrane proteins.

Hayashi Y et al.

The Embo Journal, 2023

37929762 (PubMed )
Supplement: EMBJ-42-e114272-s006.pdf

Chemical Synthesis of Alpha-Synuclein Proteins via Solid-Phase Peptide Synthesis and Native Chemical Ligation.

Gatzemeier LM et al.

Chemistry (weinheim an Der Bergstrasse, Germany), 2023

Neuronal identity defines α-synuclein and tau toxicity.

Praschberger R et al.

Neuron, 2023

Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases.

Sampognaro PJ et al.

Molecular Neurodegeneration, 2023

37131250 (PubMed )
Supplement: 13024_2023_621_MOESM1_ESM.pdf

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

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Aggregation of Disordered Proteins Associated with Neurodegeneration.

Tsoi PS et al.

International Journal of Molecular Sciences, 2023

Anionic lipid vesicles have differential effects on the aggregation of early onset-associated α-synuclein missense mutants.

Watt KJC et al.

The Journal of Biological Chemistry, 2022

Cytosolic aggregation of mitochondrial proteins disrupts cellular homeostasis by stimulating the aggregation of other proteins.

Nowicka U et al.

Elife, 2021

Sequence- and seed-structure-dependent polymorphic fibrils of alpha-synuclein.

Tanaka G et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

Alpha-synuclein at the intracellular and the extracellular side: functional and dysfunctional implications.

Ottolini D et al.

Biological Chemistry, 2017

Link between the SNCA gene and parkinsonism.

Xu W et al.

Neurobiology of Aging, 2015

Models for LRRK2-Linked Parkinsonism.

Li T et al.

Parkinson's Disease, 2011

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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."