Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.D18V
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PRH1

NM_001393989.1:p.D18V

Associated Papers

Diosgenin reduces β-sheet content in mutated α-syn aggregation: Insights from conformational dynamics at intracellular and extracellular neuronal salt concentrations.

Nandeshwar et al.

Journal of Molecular Graphics & Modelling, 2026

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

Maltseva S et al.

Biophysical Journal, 2024

Clinical Trial-Ready Patient Cohorts for Multiple System Atrophy: Coupling Biospecimen and iPSC Banking to Longitudinal Deep-Phenotyping.

Ndayisaba A et al.

Cerebellum (london, England), 2024

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

Horvath JD et al.

Cell Reports, 2023

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

Interfacial properties of α-synuclein's Parkinsonian variants.

Mohapatra A et al.

Biophysical Chemistry, 2023

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

Chin RM et al.

Biorxiv : the Preprint Server for Biology, 2023

Effects of Mutations and Post-Translational Modifications on α-Synuclein In Vitro Aggregation.

Pancoe SX et al.

Journal of Molecular Biology, 2022

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

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

Treating Parkinson's Disease with Antibodies: Previous Studies and Future Directions.

Castonguay AM et al.

Journal of Parkinson's Disease, 2021

New insights on the structure of alpha-synuclein fibrils using cryo-electron microscopy.

Guerrero-Ferreira R et al.

Current Opinion in Neurobiology, 2020

Dynamin-related protein 1: A protein critical for mitochondrial fission, mitophagy, and neuronal death in Parkinson's disease.

Feng ST et al.

Pharmacological Research, 2020

Stress-Induced Cellular Clearance Is Mediated by the SNARE Protein ykt6 and Disrupted by α-Synuclein.

Cuddy LK et al.

Neuron, 2019

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

α-synuclein Induces Mitochondrial Dysfunction through Spectrin and the Actin Cytoskeleton.

Ordonez DG et al.

Neuron, 2018

Extracellular α-synuclein induces sphingosine 1-phosphate receptor subtype 1 uncoupled from inhibitory G-protein leaving β-arrestin signal intact.

Zhang L et al.

Scientific Reports, 2017

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

Ottolini D et al.

Biological Chemistry, 2017

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.

Kröner C et al.

The European Respiratory Journal, 2015

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

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

Controlling aggregation propensity in A53T mutant of alpha-synuclein causing Parkinson's disease.

Kumar S et al.

Biochemical and Biophysical Research Communications, 2009

Novel suppressors of alpha-synuclein toxicity identified using yeast.

Liang J et al.

Human Molecular Genetics, 2008

Increased dopaminergic neuron sensitivity to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in transgenic mice expressing mutant A53T alpha-synuclein.

Yu WH et al.

Neurochemical Research, 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

alpha-Synuclein-synaptosomal membrane interactions: implications for fibrillogenesis.

Jo E et al.

European Journal of Biochemistry, 2004

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

Dev KK et al.

Neuropharmacology, 2003

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."