Varaico: Literature-Extracted Genetic Variants

Gene:SMPD1
Variant:p.E18V
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SMPD1

NM_000543.5:p.E18V

Associated Papers

Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes.

Somerville EN et al.

Expert Review of Molecular Diagnostics, 2024

Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.

Yahya V et al.

International Journal of Molecular Sciences, 2023

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

Zhang Z et al.

Journal of Hematology & Oncology, 2021

The Emerging Role of the Lysosome in Parkinson's Disease.

Navarro-Romero A et al.

Cells, 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

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

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

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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."