Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E18V
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PSEN1

NM_000021.4:p.E18V

Associated Papers

Gene therapy targeting synaptopathy linked with Alzheimer's and Parkinson's disease.

Panda SP et al.

Neuroscience, 2026

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Lu J et al.

Autophagy, 2026

The Christchurch point mutation in mouse APOE reduces Aβ-induced tau and α-synuclein pathologies.

Soto-Faguás CM et al.

Biorxiv : the Preprint Server for Biology, 2025

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

Hemoglobin as a pseudoperoxidase and drug target for oxidative stress-related diseases.

Won W et al.

Signal Transduction and Targeted Therapy, 2025

40846833 (PubMed )
Supplement: 41392_2025_2366_MOESM1_ESM.docx

Insights Into Retinal Pathologies in Neurological Disorders: A Focus on Parkinson's Disease, Multiple Sclerosis, Amyotrophic Lateral Sclerosis, and Alzheimer's Disease.

Akyuz E et al.

Journal of Neuroscience Research, 2025

Mechanism and Clinical Application Prospects of Mitochondrial DNA Single Nucleotide Polymorphism in Neurodegenerative Diseases.

Xu M et al.

Neurochemical Research, 2024

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

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Gangliosides as Therapeutic Targets for Neurodegenerative Diseases.

Inci OK et al.

Journal of Lipids, 2024

Role of Autophagy Pathway in Parkinson's Disease and Related Genetic Neurological Disorders.

Themistokleous C et al.

Journal of Molecular Biology, 2023

Interaction Between the Glymphatic System and α-Synuclein in Parkinson's Disease.

Zhang Y et al.

Molecular Neurobiology, 2023

Protein interaction networks in neurodegenerative diseases: From physiological function to aggregation.

Calabrese G et al.

The Journal of Biological Chemistry, 2022

Role of lysosomes in physiological activities, diseases, and therapy.

Zhang Z et al.

Journal of Hematology & Oncology, 2021

Therapeutic Potential of Vital Transcription Factors in Alzheimer's and Parkinson's Disease With Particular Emphasis on Transcription Factor EB Mediated Autophagy.

Rai SN et al.

Frontiers in Neuroscience, 2021

The Role of Lysosomes in a Broad Disease-Modifying Approach Evaluated across Transgenic Mouse Models of Alzheimer's Disease and Parkinson's Disease and Models of Mild Cognitive Impairment.

Hwang J et al.

International Journal of Molecular Sciences, 2019

31505809 (PubMed )
Supplement: ijms-20-04432-s001.pdf

Astrocyte alterations in neurodegenerative pathologies and their modeling in human induced pluripotent stem cell platforms.

Oksanen M et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention.

Briston T et al.

Biochemical Society Transactions, 2018

Autonomic dysfunction in genetic forms of synucleinopathies.

Chelban V et al.

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

Molecular Genetics of Neurodegenerative Dementias.

Hinz FI et al.

Cold Spring Harbor Perspectives in Biology, 2017

Macroautophagy in sporadic and the genetic form of Parkinson's disease with the A53T α-synuclein mutation.

Huang Y et al.

Translational Neurodegeneration, 2012

Neurosecretases provide strategies to treat sporadic and familial Alzheimer disorders.

Marks N et al.

Neurochemistry International, 2008

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

Morris HR

Expert Review of Neurotherapeutics, 2007

Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.

Forloni G 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."