Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.A30P
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APP

NM_000484.4:p.A30P

Associated Papers

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Aggregation of Disordered Proteins Associated with Neurodegeneration.

Tsoi PS et al.

International Journal of Molecular Sciences, 2023

Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.

Padilla-Godínez FJ et al.

International Journal of Molecular Sciences, 2021

Studying the effect of alpha-synuclein and Parkinson's disease linked mutants on inter pathway connectivities.

Sen S et al.

Scientific Reports, 2021

34381149 (PubMed )
Supplement: 41598_2021_95889_MOESM3_ESM.pdf

Hydration Thermodynamics of Familial Parkinson's Disease-Linked Mutants of α-Synuclein.

Aggarwal L et al.

Journal of Chemical Information and Modeling, 2021

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

Guan Y et al.

Frontiers in Cellular Neuroscience, 2020

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2018

Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

Coskuner-Weber O et al.

International Journal of Molecular Sciences, 2018

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

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

Ottolini D et al.

Biological Chemistry, 2017

LK6/Mnk2a is a new kinase of alpha synuclein phosphorylation mediating neurodegeneration.

Zhang S et al.

Scientific Reports, 2015

26220523 (PubMed )
Supplement: srep12564-s1.pdf

Glial A30P alpha-synuclein pathology segregates neurogenesis from anxiety-related behavior in conditional transgenic mice.

Marxreiter F et al.

Neurobiology of Disease, 2013

Tissue transglutaminase modulates alpha-synuclein oligomerization.

Segers-Nolten IM et al.

Protein Science : a Publication of the Protein Society, 2008

alpha-Synucleinopathy models and human neuropathology: similarities and differences.

Kahle PJ

Acta Neuropathologica, 2008

Autosomal dominant Parkinson's disease and the route to new therapies.

Morris HR

Expert Review of Neurotherapeutics, 2007

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

Constitutive phosphorylation of the Parkinson's disease associated alpha-synuclein.

Okochi M et al.

The Journal of Biological Chemistry, 2000

Motor dysfunction and gliosis with preserved dopaminergic markers in human alpha-synuclein A30P transgenic mice.

Gomez-Isla T et al.

Neurobiology of Aging, 0

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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."