Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.N18I
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MTOR

NM_004958.4:p.N18I

Associated Papers

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

Xu M et al.

Neurochemical Research, 2024

Gangliosides as Therapeutic Targets for Neurodegenerative Diseases.

Inci OK et al.

Journal of Lipids, 2024

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

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

Zhang Z et al.

Journal of Hematology & Oncology, 2021

Single-Cell Transcriptomics of Parkinson's Disease Human In Vitro Models Reveals Dopamine Neuron-Specific Stress Responses.

Fernandes HJR et al.

Cell Reports, 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

Current Evidence for a Bidirectional Loop Between the Lysosome and Alpha-Synuclein Proteoforms.

Wildburger NC et al.

Frontiers in Cell and Developmental Biology, 2020

Cellular and Molecular Basis of Neurodegeneration in Parkinson Disease.

Zeng XS et al.

Frontiers in Aging Neuroscience, 2018

Autophagic flux control in neurodegeneration: Progress and precision targeting-Where do we stand?

Lumkwana D et al.

Progress in Neurobiology, 2017

Autophagy and Alpha-Synuclein: Relevance to Parkinson's Disease and Related Synucleopathies.

Xilouri M et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2016

Link between the SNCA gene and parkinsonism.

Xu W et al.

Neurobiology of Aging, 2015

Limelight on alpha-synuclein: pathological and mechanistic implications in neurodegeneration.

Wales P et al.

Journal of Parkinson's Disease, 2013

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

Huang Y et al.

Translational Neurodegeneration, 2012

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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."