Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.A30P
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PSAP

NM_002778.4:p.A30P

Associated Papers

Parkinson's disease-associated mutations in α-synuclein alters its lipid-bound state.

Maltseva S et al.

Biophysical Journal, 2024

Interfacial properties of α-synuclein's Parkinsonian variants.

Mohapatra A et al.

Biophysical Chemistry, 2023

Genotypic-Phenotypic Analysis, Metabolic Profiling and Clinical Correlations in Parkinson's Disease Patients from Tamil Nadu Population, India.

Venkatesan D et al.

Journal of Molecular Neuroscience : Mn, 2022

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

Different Effects of α-Synuclein Mutants on Lipid Binding and Aggregation Detected by Single Molecule Fluorescence Spectroscopy and ThT Fluorescence-Based Measurements.

Ruf VC et al.

Acs Chemical Neuroscience, 2019

Role of Parkinson's Disease-Linked Mutations and N-Terminal Acetylation on the Oligomerization of α-Synuclein Induced by 3,4-Dihydroxyphenylacetaldehyde.

Lima VA et al.

Acs Chemical Neuroscience, 2019

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

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

Ottolini D et al.

Biological Chemistry, 2017

Familial Parkinson disease-associated mutations alter the site-specific microenvironment and dynamics of α-synuclein.

Sahay S et al.

The Journal of Biological Chemistry, 2015

Genetic variants and animal models in SNCA and Parkinson disease.

Deng H et al.

Ageing Research Reviews, 2014

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

Marxreiter F et al.

Neurobiology of Disease, 2013

Α-synuclein misfolding and Parkinson's disease.

Breydo L et al.

Biochimica Et Biophysica Acta, 2012

Alpha-synuclein is a cellular ferrireductase.

Davies P et al.

Plos One, 2011

Differential phospholipid binding of alpha-synuclein variants implicated in Parkinson's disease revealed by solution NMR spectroscopy.

Bodner CR et al.

Biochemistry, 2010

Novel suppressors of alpha-synuclein toxicity identified using yeast.

Liang J et al.

Human Molecular Genetics, 2008

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

Kahle PJ

Acta Neuropathologica, 2008

YGR198w (YPP1) targets A30P alpha-synuclein to the vacuole for degradation.

Flower TR et al.

The Journal of Cell Biology, 2007

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

Dev KK et al.

Neuropharmacology, 2003

Mouse models of alpha-synucleinopathy and Lewy pathology.

Sommer B et al.

Experimental Gerontology, 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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